A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
A genus of the family HYLOBATIDAE consisting of six species. The members of this genus inhabit rain forests in southeast Asia. They are arboreal and differ from other anthropoids in the great length of their arms and very slender bodies and limbs. Their major means of locomotion is by swinging from branch to branch by their arms. Hylobates means dweller in the trees. Some authors refer to Symphalangus and Nomascus as Hylobates. The six genera include: H. concolor (crested or black gibbon), H. hoolock (Hoolock gibbon), H. klossii (Kloss's gibbon; dwarf siamang), H. lar (common gibbon), H. pileatus (pileated gibbon), and H. syndactylus (siamang). H. lar is also known as H. agilis (lar gibbon), H. moloch (agile gibbon), and H. muelleri (silvery gibbon).
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
An individual having different alleles at one or more loci regarding a specific character.
Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Any method used for determining the location of and relative distances between genes on a chromosome.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Actual loss of portion of a chromosome.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
DNA sequences recognized as signals to end GENETIC TRANSCRIPTION.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
One of the two major pharmacological subdivisions of adrenergic receptors that were originally defined by the relative potencies of various adrenergic compounds. The alpha receptors were initially described as excitatory receptors that post-junctionally stimulate SMOOTH MUSCLE contraction. However, further analysis has revealed a more complex picture involving several alpha receptor subtypes and their involvement in feedback regulation.
A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by OXYGEN availability and is targeted for degradation by VHL TUMOR SUPPRESSOR PROTEIN.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
A member of the NICOTINIC ACETYLCHOLINE RECEPTOR subfamily of the LIGAND-GATED ION CHANNEL family. It consists entirely of pentameric a7 subunits expressed in the CNS, autonomic nervous system, vascular system, lymphocytes and spleen.
A regulatory region first identified in the human beta-globin locus but subsequently found in other loci. The region is believed to regulate GENETIC TRANSCRIPTION by opening and remodeling CHROMATIN structure. It may also have enhancer activity.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Chloro(7,12-diethenyl-3,8,13,17-tetramethyl-21H,23H-porphine-2,18-dipropanoato(4-)-N(21),N(22),N(23),N(24)) ferrate(2-) dihydrogen.
Cell surface receptor for LAMININ, epiligrin, FIBRONECTINS, entactin, and COLLAGEN. Integrin alpha3beta1 is the major integrin present in EPITHELIAL CELLS, where it plays a role in the assembly of BASEMENT MEMBRANE as well as in cell migration, and may regulate the functions of other integrins. Two alternatively spliced isoforms of the alpha subunit (INTEGRIN ALPHA3), are differentially expressed in different cell types.
An integrin alpha subunit that is unique in that it does not contain an I domain, and its proteolytic cleavage site is near the middle of the extracellular portion of the polypeptide rather than close to the membrane as in other integrin alpha subunits.
An integrin alpha subunit that primarily associates with INTEGRIN BETA1 or INTEGRIN BETA4 to form laminin-binding heterodimers. Integrin alpha6 has two alternatively spliced isoforms: integrin alpha6A and integrin alpha6B, which differ in their cytoplasmic domains and are regulated in a tissue-specific and developmental stage-specific manner.
Genes that cause the epigenotype (i.e., the interrelated developmental pathways through which the adult organism is realized) to switch to an alternate cell lineage-related pathway. Switch complexes control the expression of normal functional development as well as oncogenic transformation.
An integrin found in FIBROBLASTS; PLATELETS; MONOCYTES, and LYMPHOCYTES. Integrin alpha5beta1 is the classical receptor for FIBRONECTIN, but it also functions as a receptor for LAMININ and several other EXTRACELLULAR MATRIX PROTEINS.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Integrin alpha4beta1 is a FIBRONECTIN and VCAM-1 receptor present on LYMPHOCYTES; MONOCYTES; EOSINOPHILS; NK CELLS and thymocytes. It is involved in both cell-cell and cell- EXTRACELLULAR MATRIX adhesion and plays a role in INFLAMMATION, hematopoietic cell homing and immune function, and has been implicated in skeletal MYOGENESIS; NEURAL CREST migration and proliferation, lymphocyte maturation and morphogenesis of the PLACENTA and HEART.
An interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form. Unlike INTERLEUKIN-1BETA both membrane-bound and secreted forms of interleukin-1alpha are biologically active.
The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.
The series of cells in the red blood cell lineage at various stages of differentiation.
An integrin found on fibroblasts, platelets, endothelial and epithelial cells, and lymphocytes where it functions as a receptor for COLLAGEN and LAMININ. Although originally referred to as the collagen receptor, it is one of several receptors for collagen. Ligand binding to integrin alpha2beta1 triggers a cascade of intracellular signaling, including activation of p38 MAP kinase.
A subclass of alpha-adrenergic receptors that mediate contraction of SMOOTH MUSCLE in a variety of tissues such as ARTERIOLES; VEINS; and the UTERUS. They are usually found on postsynaptic membranes and signal through GQ-G11 G-PROTEINS.
This integrin alpha subunit combines with INTEGRIN BETA1 to form a receptor (INTEGRIN ALPHA5BETA1) that binds FIBRONECTIN and LAMININ. It undergoes posttranslational cleavage into a heavy and a light chain that are connected by disulfide bonds.
Integrin alpha1beta1 functions as a receptor for LAMININ and COLLAGEN. It is widely expressed during development, but in the adult is the predominant laminin receptor (RECEPTORS, LAMININ) in mature SMOOTH MUSCLE CELLS, where it is important for maintenance of the differentiated phenotype of these cells. Integrin alpha1beta1 is also found in LYMPHOCYTES and microvascular endothelial cells, and may play a role in angiogenesis. In SCHWANN CELLS and neural crest cells, it is involved in cell migration. Integrin alpha1beta1 is also known as VLA-1 and CD49a-CD29.
Immature, nucleated ERYTHROCYTES occupying the stage of ERYTHROPOIESIS that follows formation of ERYTHROID PRECURSOR CELLS and precedes formation of RETICULOCYTES. The normal series is called normoblasts. Cells called MEGALOBLASTS are a pathologic series of erythroblasts.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
A subclass of alpha-adrenergic receptors found on both presynaptic and postsynaptic membranes where they signal through Gi-Go G-PROTEINS. While postsynaptic alpha-2 receptors play a traditional role in mediating the effects of ADRENERGIC AGONISTS, the subset of alpha-2 receptors found on presynaptic membranes signal the feedback inhibition of NEUROTRANSMITTER release.
The rate dynamics in chemical or physical systems.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
A cell surface receptor mediating cell adhesion to the EXTRACELLULAR MATRIX and to other cells via binding to LAMININ. It is involved in cell migration, embryonic development, leukocyte activation and tumor cell invasiveness. Integrin alpha6beta1 is the major laminin receptor on PLATELETS; LEUKOCYTES; and many EPITHELIAL CELLS, and ligand binding may activate a number of signal transduction pathways. Alternative splicing of the cytoplasmic domain of the alpha6 subunit (INTEGRIN ALPHA6) results in the formation of A and B isoforms of the heterodimer, which are expressed in a tissue-specific manner.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
The cells in the erythroid series derived from MYELOID PROGENITOR CELLS or from the bi-potential MEGAKARYOCYTE-ERYTHROID PROGENITOR CELLS which eventually give rise to mature RED BLOOD CELLS. The erythroid progenitor cells develop in two phases: erythroid burst-forming units (BFU-E) followed by erythroid colony-forming units (CFU-E); BFU-E differentiate into CFU-E on stimulation by ERYTHROPOIETIN, and then further differentiate into ERYTHROBLASTS when stimulated by other factors.
Members of the beta-globin family. In humans, two non-allelic types of gamma-globin - A gamma and G gamma are encoded in the beta-globin gene cluster on CHROMOSOME 11. Two gamma-globin chains combine with two ZETA-GLOBIN chains to form the embryonic hemoglobin Portland. Fetal HEMOGLOBIN F is formed from two gamma-globin chains combined with two ALPHA-GLOBIN chains.
This intrgrin is a key component of HEMIDESMOSOMES and is required for their formation and maintenance in epithelial cells. Integrin alpha6beta4 is also found on thymocytes, fibroblasts, and Schwann cells, where it functions as a laminin receptor (RECEPTORS, LAMININ) and is involved in wound healing, cell migration, and tumor invasiveness.
The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.
The alpha subunits of integrin heterodimers (INTEGRINS), which mediate ligand specificity. There are approximately 18 different alpha chains, exhibiting great sequence diversity; several chains are also spliced into alternative isoforms. They possess a long extracellular portion (1200 amino acids) containing a MIDAS (metal ion-dependent adhesion site) motif, and seven 60-amino acid tandem repeats, the last 4 of which form EF HAND MOTIFS. The intracellular portion is short with the exception of INTEGRIN ALPHA4.
Proteins prepared by recombinant DNA technology.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
A family of transmembrane glycoproteins (MEMBRANE GLYCOPROTEINS) consisting of noncovalent heterodimers. They interact with a wide variety of ligands including EXTRACELLULAR MATRIX PROTEINS; COMPLEMENT, and other cells, while their intracellular domains interact with the CYTOSKELETON. The integrins consist of at least three identified families: the cytoadhesin receptors(RECEPTORS, CYTOADHESIN), the leukocyte adhesion receptors (RECEPTORS, LEUKOCYTE ADHESION), and the VERY LATE ANTIGEN RECEPTORS. Each family contains a common beta-subunit (INTEGRIN BETA CHAINS) combined with one or more distinct alpha-subunits (INTEGRIN ALPHA CHAINS). These receptors participate in cell-matrix and cell-cell adhesion in many physiologically important processes, including embryological development; HEMOSTASIS; THROMBOSIS; WOUND HEALING; immune and nonimmune defense mechanisms; and oncogenic transformation.
An integrin alpha subunit that binds COLLAGEN and LAMININ though its I domain. It combines with INTEGRIN BETA1 to form the heterodimer INTEGRIN ALPHA1BETA1.
Brain waves characterized by a relatively high voltage or amplitude and a frequency of 8-13 Hz. They constitute the majority of waves recorded by EEG registering the activity of the parietal and occipital lobes when the individual is awake, but relaxed with the eyes closed.
Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.
An integrin alpha subunit that occurs as alternatively spliced isoforms. The isoforms are differentially expressed in specific cell types and at specific developmental stages. Integrin alpha3 combines with INTEGRIN BETA1 to form INTEGRIN ALPHA3BETA1 which is a heterodimer found primarily in epithelial cells.
Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.
A family of hemoglobin-like proteins found in BACTERIA; PLANTS; and unicellular eukaryotes. Truncated hemoglobins are distantly related to vertebrate hemoglobins and are typically shorter than vertebrate hemoglobins by 20-40 residues.
One of the two major classes of cholinergic receptors. Nicotinic receptors were originally distinguished by their preference for NICOTINE over MUSCARINE. They are generally divided into muscle-type and neuronal-type (previously ganglionic) based on pharmacology, and subunit composition of the receptors.
Drugs that selectively bind to and activate alpha adrenergic receptors.
A tissue-specific subunit of NF-E2 transcription factor that interacts with small MAF PROTEINS to regulate gene expression. P45 NF-E2 protein is expressed primarily in MEGAKARYOCYTES; ERYTHROID CELLS; and MAST CELLS.
A nuclear transcription factor. Heterodimerization with RETINOID X RECEPTOR GAMMA is important to metabolism of LIPIDS. It is the target of FIBRATES to control HYPERLIPIDEMIAS.
A naturally occurring prostaglandin that has oxytocic, luteolytic, and abortifacient activities. Due to its vasocontractile properties, the compound has a variety of other biological actions.
Drugs that bind to but do not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists. Adrenergic alpha-antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A group of transcription factors that were originally described as being specific to ERYTHROID CELLS.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Established cell cultures that have the potential to propagate indefinitely.
A basic-leucine zipper transcription factor that regulates GLOBIN gene expression and is related to TRANSCRIPTION FACTOR AP-1. NF-E2 consists of a small MAF protein subunit and a tissue-restricted 45 kDa subunit.
A highly polar organic liquid, that is used widely as a chemical solvent. Because of its ability to penetrate biological membranes, it is used as a vehicle for topical application of pharmaceuticals. It is also used to protect tissue during CRYOPRESERVATION. Dimethyl sulfoxide shows a range of pharmacological activity including analgesia and anti-inflammation.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.
Hepatocyte nuclear factor 1-alpha is a transcription factor found in the LIVER; PANCREAS; and KIDNEY that regulates HOMEOSTASIS of GLUCOSE.

Pathophysiology of beta thalassemia--a guide to molecular therapies. (1/78)

The central mechanism underlying the pathophysiology of the beta thalassemias can be related to the deleterious effects of imbalanced globin chain synthesis on erythroid maturation and survival. An imbalance of the alpha/non-alpha globin chains leads to an excess of unmatched alpha globin which precipitates out, damaging membrane structures leading to accelerated apoptosis and premature destruction of the erythroid precursors in the bone marrow (ineffective erythropoiesis). Close observation of the genotype/phenotype relationships confirms the pathophysiological mechanism and provides clues to molecular therapies, all of which aim to reduce the alpha/non-alpha chain imbalance. They include inheritance of the milder forms of beta thalassemia, co-inheritance of alpha thalassemia, or genetic factors (quantitative trait loci, QTLs) for increasing gamma globin expression. Currently, the most promising molecular therapeutic approaches include increasing beta globin gene expression by stem cell gene therapy and increasing gamma globin expression using pharmacological agents or by transduction of the gamma globin genes.  (+info)

Fetal globin induction--can it cure beta thalassemia? (2/78)

The beta thalassemias are one of a few medical conditions in which reactivation of a gene product that is expressed during fetal life can functionally replace a deficiency of essential proteins expressed at a later developmental stage. The fetal globin genes are present and normally integrated in hematopoietic stem cells, and at least one fetal gene appears accessible for reactivation, particularly in beta degrees thalassemia. However, rapid cellular apoptosis from alpha globin chain precipitation, and relatively low levels of endogenous erythropoietin (EPO) in some beta(+) thalassemia patients contribute to the anemia in beta thalassemia syndromes. In clinical trials, three classes of therapeutics have demonstrated proof-of-principle of this approach by raising total hemoglobin levels by 1-4 g/dL above baseline in thalassemia patients: EPO preparations, short chain fatty acid derivatives (SCFADs), and chemotherapeutic agents. Although thalassemic erythrocytes survive only for a few days, the magnitude of these responses is similar to those induced by rhu-EPO in anemic conditions of normal erythrocyte survival. New oral therapeutic candidates, which stimulate both fetal globin gene expression and erythropoiesis, and combinations of therapeutics with complementary molecular actions now make this gene-reactivation approach feasible to produce transfusion independence in many patients. Development of the candidate therapeutics is hindered largely by costs of drug development for an orphan patient population.  (+info)

Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia. (3/78)

 (+info)

Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. (4/78)

 (+info)

Mir-144 selectively regulates embryonic alpha-hemoglobin synthesis during primitive erythropoiesis. (5/78)

 (+info)

Regulation of human alpha-globin gene expression and alpha-thalassemia. (6/78)

Hemoglobin and globin genes are important models for studying protein and gene structure, function and regulation. We reviewed the main aspects of regulation of human alpha-globin synthesis, encoded by two adjacent genes (alpha(2) and alpha(1)) clustered on chromosome 16. Their expression is controlled mainly by a regulatory element located 40 kb upstream on the same chromosome, the alpha-major regulatory element, whose activity is restricted to a core fragment of 350 bp, within which several regulatory protein binding sites have been found. Natural deletions involving alpha-major regulatory element constitute a particular category of alpha-thalassemia determinants in which the alpha-globin genes are physically intact but functionally inactive.  (+info)

Synthesis and secretion of hemoglobin by retinal pigment epithelium. (7/78)

 (+info)

Study of spatial organization of chicken alpha-globin gene domain by 3C technique. (8/78)

This work deals with 3C (Chromosome Conformation Capture) analysis of the chicken alpha-globin gene domain in embryonic erythrocytes and lymphoid cells. Ligation products were quantitatively analyzed by real-time PCR with TaqMan probes. It was found that in lymphoid cells, where alpha-globin gene is not active, the domain has a relatively extended configuration. In embryonic erythrocytes that transcribe alpha(D) and alpha(A) genes, simultaneous interaction of several domain elements was revealed including the major regulatory element, the erythroid-specific DNase I hypersensitive site at a distance of 9 kb upstream from the alpha-globin gene cluster (-9 DHS), promoter of the housekeeping gene CGTHBA, the alpha(D)-globin gene promoter, and the erythroid-specific enhancer located after the alpha-globin gene cluster. We suppose that such interaction is necessary to provide for the active transcription status of the chicken alpha-globin gene domains in erythroid cells.  (+info)

Author: Gleixner, E. et al.; Genre: Journal Article; Published in Print: 2008-09; Open Access; Keywords: globin;hyperoxia; hypoxia; respiration; tracheae|br/|; Title: Oxygen-induced changes in hemoglobin expression in Drosophila.
We use cookies to ensure that we give you the best experience on our website. If you click Continue well assume that you are happy to receive all cookies and you wont see this message again. Click Find out more for information on how to change your cookie settings ...
In our two papers (1, 2) in which we have detailed the factual basis and theoretical implications of molecular drive, we have defined it as a process of fixing a mutation within multigene and non-genic families in a population, as a consequence of DNA turnover. Considerations of rates of turnover indicate that individuals of a sexual population would change in unison with respect to the changing composition of a family. At the heart of molecular drive is the widespread phenomenon of concerted evolution. Although the reality of this phenomenon is incontestable, we cannot accept the definitive statement of Lewins, drawing in particular on remarks made by A. Jeffreys on the human globin cluster and Alu family, that it is not a universal phenomenon. Concerted evolution is occurring in the globin cluster; indeed this phenomenon was first defined as such in this cluster due to the homogenization of pairs of [alpha] and [gamma] genes, and their flanking sequences, by unequal exchange or gene ...
A 350-bp segment of DNA associated with an erythroid-specific DNase I-hypersensitive site (HS-40), upstream of the alpha-globin gene cluster, has been identified as the major tissue-specific regulator of the alpha-globin genes. However, this element does not direct copy number-dependent or developmentally stable expression of the human genes in transgenic mice. To determine whether additional upstream hypersensitive sites could provide more complete regulation of alpha gene expression we have studied 17 lines of transgenic mice bearing various DNA fragments containing HSs -33, -10, -8, and -4, in addition to HS -40. Position-independent, high-level expression of the human zeta- and alpha-globin genes was consistently observed in embryonic erythroid cells. However, the additional HSs did not confer copy-number dependence, alter the level of expression, or prevent the variable down-regulation of expression in adults. These results suggest that the region upstream of the human alpha-globin genes is not
Using the dominant control region (DCR) sequences that flank the beta-globin gene locus, we have been able to achieve high-level expression of the human alpha-globin gene in transgenic mice. Expression in fetal liver and blood is copy number dependent and at levels comparable to that of the endogenous mouse alpha-globin genes. Transgenic fetuses with high-copy numbers of the transgene suffer severe anemia and die before birth. Using a construct with both the human alpha- and beta-globin genes and the beta-globin DCR, live mice with low-copy numbers were obtained. Both human globin genes are expressed at high levels in adult red cells to give human hemoglobin HbA in amounts equal to or greater than endogenous mouse hemoglobin. Expression of HbA in murine red cells is not accompanied by any increase in mean corpuscular volume (MCV) or mean corpuscular hemoglobin concentration (MCHC). However, these transgenic mice tend to have an increased number of reticulocytes in peripheral blood; consistent with some
Question - What does mild anisopoikilocytosis and predominantly microcytic hypochromic mean?. Ask a Doctor about diagnosis, treatment and medication for Anemia, Ask a Radiologist
Question - What is microcytic hypochromic ?. Ask a Doctor about diagnosis, treatment and medication for Hypotension, Ask an Internal Medicine Specialist
Using the dominant control region (DCR) sequences that flank the beta-globin gene locus, we have been able to achieve high-level expression of the human alpha-globin gene in transgenic mice. Expression in fetal liver and blood is copy number dependent and at levels comparable to that of the
TY - JOUR. T1 - Modulation of mouse hemoglobin expression by hydroxyurea and erythropoietin in vivo.. AU - Alter, B. P.. AU - Wagner, C. K.. AU - Susser, L. S.. AU - Weinberg, R. S.. PY - 1989. Y1 - 1989. UR - http://www.scopus.com/inward/record.url?scp=0024795799&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0024795799&partnerID=8YFLogxK. M3 - Article. C2 - 2616578. AN - SCOPUS:0024795799. VL - 316 B. SP - 317. EP - 325. JO - Progress in Clinical and Biological Research. JF - Progress in Clinical and Biological Research. SN - 0361-7742. ER - ...
A new polymorphic BgI II restriction endonuclease site in the alpha-globin gene complex has been found in Cypriot, Sardinian, and Greek populations. In all cases, this polymorphism is linked to a particular hypervariable region between the zeta 2 and zeta 1 genes. This suggests that these hypervariable regions are stable and will be useful for genetic analysis.
A new polymorphic BgI II restriction endonuclease site in the alpha-globin gene complex has been found in Cypriot, Sardinian, and Greek populations. In all cases, this polymorphism is linked to a particular hypervariable region between the zeta 2 and zeta 1 genes. This suggests that these hypervariable regions are stable and will be useful for genetic analysis.
We use cookies to ensure that we give you the best experience on our website. If you click Continue well assume that you are happy to receive all cookies and you wont see this message again. Click Find out more for information on how to change your cookie settings ...
દરિયા-સ્તરના દબાણે સ્વસ્થ માનવ શ્વસન હવામાં ધમનીય લોહીના નમૂના પૈકીનો લગભગ 98.5% જેટલો પ્રાણવાયુ Hgb(હિમોગ્લોબિન) સાથે ભળી જાય છે. લગભગ 1.5% જેટલા નમૂના અન્ય રક્ત પ્રવાહીઓમાં ભળી જાય છે અને હિમોગ્લોબિન સાથે સંકળાતો નથી. સસ્તનોમાં અને અન્ય અનેક જાતોમાં હિમોગ્લોબિનના કણો એ પ્રાણવાયુના પ્રાથમિક પરિવાહકો છે(અપવાદ માટે જુઓ નીચે). હિમોગ્લોબિનની પ્રાણવાયુ બંધનકર્તા ક્ષમતા અંદાજે 1.36 અને.37 ...
Femtochemistry IX: Femtochemistry, Femtobiology, and Femtophysics - Frontries in Ultrafast Science and Technology, Beijing, China, 8-13 August 2009, p. 111 P-43 ...
Alpha thalassemia carrier. Two alpha chain genes are deleted. Alpha thalassemia minor or alpha thalassemia-1 trait are other terms for this condition. If both deleted genes are from the same #16 chromosome, it is called a cis deletion and is inherited from one parent. If instead one gene is missing from both #16 chromosomes, it is called a trans deletion and is inherited from both parents. This results in an anemia that is usually mild to moderate, but can be severe. When both parents are carriers of the cis deletion, there is a one in four, or 25 percent, chance with each pregnancy, to have a baby with alpha thalassemia major. Identifying whether an alpha thallasemia carrier has the cis deletion versus two trans deletions requires testing by DNA (deoxyribonucleic acid) analysis. DNA testing is usually done from a blood sample and looks at the alpha chain genes on each #16 chromosome, to determine which are deleted. ...
Chair: Michael Awad, MD, PhD Faculty: Jeffrey Blatnik, MD; Amber Traugott, MD; and Adnan Alseidi, MD Program Outline: -Welcome and Overview: Michael Awad, MD, PhD -Esophagus, Stomach, Obesity: Michael Awad, MD, PhD -General Abdomen, Hernia, Spleen: Jeffrey Blatnik, MD -Colorectal & Anal Disease: Amber Traugott, MD -Small Intestine, Biliary Disease, Flexible Endoscopy: Adnan Alseidi, MD. ...
Alpha thalassemia causes mild anemia and is found in many ethnic groups. Usually it is found in regions where malaria is endemic. We have found that alpha thalassemia is common in Ashkenazim, whose countries of origin are in temperate climates.. We are analyzing the alpha globin polymorphisms to determine the haplotypes of individuals of many ethnic groups and will compare to try to define the origin of thalassemia in these individuals of European extraction. ...
View messages from patients providing insights into their medical experiences with Alpha Thalassemia - Symptoms. Share in the message dialogue to help others and address questions on symptoms, diagnosis, and treatments, from MedicineNets doctors.
Current models suggest that tissue-specific genes are arranged in discrete, independently controlled segments of chromatin referred to as regulatory domains. Transition from a closed to open chromatin structure may be an important step in the regulation of gene expression. To determine whether the human alpha-globin cluster, like the beta-globin cluster, lies within a discrete, erythroid-specific domain, we have examined the long-range genomic organization and chromatin structure around this region. The alpha genes lie adjacent to at least four widely expressed genes. The major alpha-globin regulatory element lies 40 kb away from the cluster within an intron of one of these genes. Therefore, unlike the beta cluster, cis-acting sequences controlling alpha gene expression are dispersed within a region of chromatin that is open in both erythroid and nonerythroid cells. This implies a difference in the hierarchical control of alpha- and beta-globin expression.
Transcriptional analysis of the human pseudogene psi alpha globin has revealed the following features: (1) The promoter with a 23 bp deletion between the CCAAT and ATA boxes is functional both in vitro and in vivo, 3 fold and 10 fold less efficient, respectively, than alpha. (2) Both the psi alpha and alpha globin gene promoters are active in the absence of transcriptional enhancers, either a gene-encoded or viral enhancer. (3) The mutated poly(A) addition signal in psi alpha (AATGAA) appears to be completely nonfunctional. This result provides an explanation for the absence of psi alpha transcripts in human erythroid cells.
Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.
Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.
The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed.
Thalassemia is an inherited blood disorder. It is passed down from one or both parents through their genes. Learn about the4 types of alpha thalassemia, symptoms, treatment options, and more.
Anthropogenetical Analysis of Abnormal Human -globin Gene Cluster Arrangement on Chromosome 16*. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Read Structure of Globin Gene Domains in Mammals and Birds, Russian Journal of Genetics on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
We developed a general approach that combines chromosome conformation capture carbon copy (5C) with the Integrated Modeling Platform (IMP) to generate high-resolution three-dimensional models of chromatin at the megabase scale. We applied this approach to the ENm008 domain on human chromosome 16, co …
CDS Hgb/NOC Lyse CDS-501-083 (4 Liters) for Use on Abbott Cell Dyn 3200. Buy this high quality, low cost CDS-501-083 hematology reagent from us.
and monitored for changes in the blood profile using a haematological analyser. A chronic infection lasting between 48 and 112 days was observed. Microcytic hypochromic anaemia, which was characterized by a decline in packed cell volume (PCV), red blood cell (RBC) numbers, mean corpuscular volume (MCV) and mean corpuscular haemoglobin concentration (MCH) developed at an early stage, and persisted throughout the infection. The mean platelet counts declined significantly from 3 x 105/μl (day 0 post infection) to 6.8 x 104/μl (day 7 post infection) and remained low in all the animals. However, the mean platelets volume rose during the course of the infection. An initial decline in total white blood cell (WBC) counts occurred between day 0 and 7 (3.1 x 106/μl) and remained low up to day 35 post infection (3.5 x 106/μl). This was followed by an increase in WBC counts, principally associated with increased lymphocyte numbers. It is concluded that microcytic hypochromic anaemia, thrombocytopaenia ...
In normal individual, hemoglobin consists of alpha globin chain and beta globin chain. There are two forms of thalassemia. These include alpha thalassemia and beta thalassemia. Alpha thalassemia occurs due to excess of beta globin chain than alpha glob
Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It causes anemia in affected children. Learn more about symptoms, diagnosis, and treatment.
Name:Harlen Forya Sex: Female Country: Argentina Age: 9 years Diagnoses: 1. Chronic encephalopathy 2. Epilepsy 3. Microcytic hypochromic anemia Admission Date: 2013-06-21 Days Admitted to the Hospital: 28 Before treatment: Harlen Forya is a 9 year ol
S. Svasti, Suwanmanee, T., Fucharoen, S., Moulton, H. M., Nelson, M. H., Maeda, N., Smithies, O., and Kole, R., RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice., Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 4, pp. 1205-10, 2009. ...
For a discussion of alpha-thalassemia, see Alpha Thalassemia. A list of HBA1 and HBA2 alpha-thalassemia mutations is on the HBA2 page. ...
Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It causes anemia in affected children. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is the part of red blood cells. It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production of hemoglobin. There are different types of thalassemia. The severity of anemia depends on the type the child has. ...
The MCH or mean cell hemoglobin represents the absolute amount of hemoglobin in the average red blood cell in a sample. Its units are picograms (pg) per cell. The MCH is calculated from the hemoglobin concentration (Hgb) and the RBC count using the following equation:. MCH (pg) = (Hgb x 10) ÷ RBC. This value usually tracks with the mean cell volume as it is dependent on the volume of red blood cells and is generally a less useful measure than MCV or MCHC, which we use to characterize an anemia (e.g. microcytic hypochromic). For example, a low MCH could be due to smaller than normal cells with normal Hb concentration or normal sized cells with lower than normal Hb concentration. It is better to know the values for cell volume (MCV) and Hb concentration (Hgb) directly. Laser-based hematology analyzers also provide results for the hemoglobin content within intact red blood cells, i.e. this is measured directly by high angle light scatter of the laser versus being a calculated value. This is called ...
Tfr1 has long been used as a marker of red blood cells and is believed to play an essential role in erythropoiesis; however, its role in HSPC is poorly understood. Here, we generated and characterized a mouse model in which Tfr1 expression was deleted specifically in HSC and observed profoundly impaired BM function and defects in multiple cell lineages. These defects, which cause cKO offspring to die within one week of age, indicate that Tfr1 plays an essential role in hematopoiesis.. Specifically, our HSC-specific Tfr1-deficient mouse model allowed us to systematically dissect the role of Tfr1 in the development of erythrocytes, granulocytes, thrombocytes, and lymphocytes. Our findings of microcytic hypochromic anemia in neonatal cKO pups and progressive erythropenia in FL of cKO embryos reveal that Tfr1 is required for erythropoiesis at an early stage, as loss of Tfr1 primarily blocked the differentiation of erythroblast precursors (e.g. proerythroblasts, polychromatophilic erythroblasts), ...
Images show peripheral blood smears containing a dimorphic population (hypochromic-microcytic, and normochromic-normocytic red blood cells). From MLS Collection, University of Alberta.. Image 1: 100x oil immersion. https://doi.org/10.7939/R3T14V447. Image 2: 50x oil immersion. https://doi.org/10.7939/R3V11W18D. Cell Description:. The peripheral blood smear shows that there are two distinct red blood cell populations present. The different red blood cell populations that may be seen are normocytic/normochromic, microcytic/hypochromic, macrocytic/normochromic.1,2. Cell Formation:. The cause for the formation of a dimorphic red blood cell population varies depending on the clinical condition.. Associated Disease/Clinical States:1-2. Sideroblastic Anemia. Myelodysplastic Syndrome (MDS). Iron, Vitamin B12, Folate deficiency (and during the early treatment stage). Post-transfusion. Erythropoietin Therapy. Note: RDW , 14.5%3. ...
Transferrin is a protein with a molecular weight of approximately 79.6 kDa. It is the main protein of iron transport (III). It is synthesised mostly in the liver, but also in the choroid plexus of the brain. The transferrin plasma concentration is regulated by the availability of iron in the body: during iron deficiency, the transferrin plasma concentration increases, and returns to normal when the deficiency is treated. A large transferrin plasma concentration may be caused by microcytic hypochromic anaemia (the assay of transferrin may then be used for treatment monitoring), during iron deficiency, but also during pregnancy or even during oestrogen treatment.. A decrease of transferrin can be measured in the case of the acute inflammatory phase, chronic hepatitis or even malnutrition. A nephrotic syndrome can also decrease the transferrin concentration in plasma. ...
Transferrin is a protein with a molecular weight of approximately 79.6 kDa. It is the main protein of iron transport (III). It is synthesised mostly in the liver, but also in the choroid plexus of the brain. The transferrin plasma concentration is regulated by the availability of iron in the body: during iron deficiency, the transferrin plasma concentration increases, and returns to normal when the deficiency is treated. A large transferrin plasma concentration may be caused by microcytic hypochromic anaemia (the assay of transferrin may then be used for treatment monitoring), during iron deficiency, but also during pregnancy or even during oestrogen treatment.. A decrease of transferrin can be measured in the case of the acute inflammatory phase, chronic hepatitis or even malnutrition. A nephrotic syndrome can also decrease the transferrin concentration in plasma. ...
This ELISA kit uses the Sandwich-ELISA principle. The micro ELISA plate provided in this kit has been pre-coated with an antigen specific to Human αHSP(Alpha-Hemoglobin Stabilizing Protein). Standards or samples are added to the micro ELISA plate wells and combined with the specific antigen. Then a biotinylated detection antigen specific for Human αHSP(Alpha-Hemoglobin Stabilizing Protein) and Avidin-Horseradish Peroxidase (HRP) conjugate are added successively to each micro plate well and incubated. Free components are washed away. The substrate solution is added to each well. Only those wells that contain Human αHSP(Alpha-Hemoglobin Stabilizing Protein), biotinylated detection antigen and Avidin-HRP conjugate will appear blue in color. The enzyme-substrate reaction is terminated by the addition of stop solution and the color turns yellow. The optical density (OD) is measured spectrophotometrically at a wavelength of 450 nm ± 2 nm. The OD value is proportional to the concentration of Human ...
Accumulating evidence converges on the possibility that chromosomes interact with each other to regulate transcription in trans. To systematically explore the epigenetic dimension of such interactions, we devised a strategy termed circular chromosome conformation capture (4C). This approach involves …
AHSP - alpha-hemoglobin stabilizing protein [ PDB file ] [ PubMed link ] Red blood cells contain an excess of the alpha-chain of hemoglobin over the beta-chain. It is known that excess alpha-globin is unstable, and its precipitation can lead to membrane damage and apoptosis. This phenomenon is the root of the beta-thalassemia phenotype, in which sufferers cannot make sufficient beta-globin. How is the normal excess of alpha-globin kept safe? The answer seems to lie in AHSP - a protein that appears to act as a specific chaperone of alpha-globin, binding to the globin and preventing its precipitation. We have determined the structure of AHSP and used NMR titration methods and mutagenesis to reveal which residues are involved in mediating this specific interaction. In addition, as part of a collaboration with Yigong Shi at Princeton, the structure of the AHSP:a-globin complex was determined by X-ray crystallography. This structure confirmed many of our predictions based on biophysical analysis of ...
Blood Trait Enhancers. Blood cell traits both represent an auspicious model to investigate genetic determinants of human phenotypic diversity and are themselves of direct clinical significance. GWAS have identified numerous loci critical for hematopoiesis, but the underlying elements and genes responsible have in only a few cases been identified and validated. We hypothesize that common genetic enhancer variation is a paradigm for the determination of traits by modulating lineage-specific gene expression. E.g. we find that ~50% of the GWAS-marked loci associated with fundamental erythroid traits have at least one trait-associated variant falling directly within an erythroid enhancer, which represents highly significant enrichment as compared to control variants or enhancers. Many enhancers are thought to be redundant or compensated fine-tuners of gene regulation, for which genetic variation has minimal impact on gene expression. We hypothesize that trait-associated enhancers are critical nodes ...
Journal of Clinical and Diagnostic Research aims to publish findings of doctors at grass root level and post graduate students, so that all unique medical experiences are recorded in literature.
The global market for alpha thalassemia is expected to grow at a CAGR of approximately 8.8% during the forecast period 2017-2023.. Get Exclusive Sample Copy @ https://www.marketresearchfuture.com/sample_request/5148 . Alpha Thalassemia Global Market - Segmentation. The alpha thalassemia is segmented on the basis of type, diagnosis, treatment, and end-users.. On the basis of the type, the market is segmented into hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome (the more severe form), HbH disease, silent carrier state, and trait.. On the basis of the diagnosis, the market is segmented into perinatal testing, prenatal testing, and pre-implantation. Further, the perinatal testing sub-categorized into complete blood count (CBC) And DNA testing. The prenatal testing segment is divided into Prenatal Genetic Testing and Chorionic Villus Sampling. On the basis of the treatment, the market is segmented into blood transfusions, iron chelation, bone marrow, or stem cell transplant, surgery and ...
There are at least 4 different and distinct alpha-thalassaemias: silent carrier (1 affected alpha-globin gene), alpha-thalassaemia trait (2 affected alpha-globin genes), Hb H disease (typically 3 affected alpha-globin genes), and Hb Bart hydrops fetalis syndrome (typically deletion of all 4 alpha...
Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by mental retardation, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia. Alpha thalassemia, which is...
TY - JOUR. T1 - ζ-/-thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation. AU - Leder, Aya. AU - McMenamin, Jennifer. AU - Fontaine, Karen. AU - Bishop, Alexander. AU - Leder, Philip. PY - 2005/3/1. Y1 - 2005/3/1. N2 - Thalassemia is a disease caused by a variety of mutations affecting both the adult and embryonic α- and β-globin loci. A mouse strain carrying an embryonic ζ-globin gene disrupted by the insertion of a PGK-Neo cassette displays an α-thalassemia-like syndrome. Embryonic survival of this ζ-null mouse is variable and strongly influenced by genetic background, the 129/SvEv mouse strain displaying a more severe phenotype than C57BL/6. We have identified two modifying loci on C57BL/6 chromosomes 2 and 5, which affect the penetrance of embryonic lethality in the 129/SvEv mouse. Through this work, we were able to observe an interesting effect on somatic recombination events in thalassemic embryos. We show ...
Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It causes anemia in affected children. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is the part of red blood cells. It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production of hemoglobin.
Dear Doctor: My 10 months old son is getting iron and vitamin B supplements for magnets past 5 months when his anemia is diagnosed at magnets age of 5 months (9.2 g/dL). His Hb at magnets age of 7 months is 10.2 g/dL and 8 months Hb is 9.8 g/dL. Doctor recently ordered some more tests, results of which are as under:. HAEMOGRAM. Haemoglobin 10.80 g/dL. Packed Cell volume 32.00%. Leukocyte Count, total 14.20 thou/mm3. RBC Count 3.95 mill/mm3. MCV 81.00 fL. MCH 27.30 pg. MCHC 33.70 g/dL. Platelet Count 624.00 thou/mm3. Leukocyte Count, Differential :. Segmented Neutrophils 30.50%. Lymphocytes 58.80%. Monocytes 8.90%. Eosinophils 1.70%. Basophils 0.10%. E.S.R.. Westergren 21.00 mm(1 hr). Blood Picture. anisocytosis +, microcytic hypochromic RBC+. There is leucocytosis with lymphocytosis. Platelets are increased. No hemoparasite seen.. Reticulocyte Count (Automated) 1.43%. RBC Fragility Test (Osmotic Fragility Test for RBC). Mean Corpuscular Fragility (MCF) 0.46%. Haemoglobin Chromatography, ...
beta-Globins: Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
Trial of HQK-1001 in Beta Thalassemia Intermedia Trial of HQK-1001 in Beta Thalassemia Intermedia in Lebanon After a screening peri
Each protein chain arranges into a set of alpha-helix structural segments connected together in a globin fold arrangement. Such ... 2009). "Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells". Proc. Natl. ... without even a single amino acid difference in either the alpha or the beta globin protein chains. Whereas the human and ... heme/globin-containing molecules (even monomeric globin ones) that deal with gas-binding are referred to as oxyhemoglobins. In ...
Each protein chain arranges into a set of alpha-helix structural segments connected together in a globin fold arrangement. Such ... differing by only one amino acid in both the alpha and the beta globin protein chains.[24] These differences grow larger ... heme/globin-containing molecules (even monomeric globin ones) that deal with gas-binding are referred to as oxyhemoglobins. In ... "Globin Gene Server. Pennsylvania State University. Retrieved 2008-10-12.. *^ Kikuchi, G.; Yoshida, T.; Noguchi, M. (2005). " ...
CYP51A1 (lanosterol 14-alpha demethylase) P450s in other species[edit]. Animals[edit]. Many animals have as many or more CYP ... 7-alpha hydroxylation of 24-hydroxycholesterol. 1 subfamily, 1 gene. CYP39A1 CYP46. cholesterol 24-hydroxylase. 1 subfamily, 1 ... steroid biosynthesis, 17-alpha hydroxylase. 1 subfamily, 1 gene. CYP17A1 CYP19. steroid biosynthesis: aromatase synthesizes ... CYP27A1 (bile acid biosynthesis), CYP27B1 (vitamin D3 1-alpha hydroxylase, activates vitamin D3), CYP27C1 (unknown function) ...
Globins. Hemoglobin. Subunits. Alpha locus on 16:. *α *HBA1. *HBA2. *pseudo. *ζ *HBZ ...
"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166.. ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'.[4] ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ... The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains ...
... belongs to the globin superfamily of proteins, and as with other globins, consists of eight alpha helices connected ... Wu G, Wainwright LM, Poole RK (2003). Microbial globins. Advances in Microbial Physiology. 47. pp. 255-310. doi:10.1016/S0065- ...
Globin synthesis defect *sickle cell disease. *Alpha-thalassemia, e.g. HbH disease ... Second, the breast-milk of some women contains a metabolite of progesterone called 3-alpha-20-beta pregnanediol. This substance ... Alpha-1-antitrypsin deficiency, which is commonly missed, and must be considered in DDx ... alpha 1-antitrypsin deficiency, and other pediatric liver diseases should be considered. The evaluation for these will include ...
... while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene ... Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, ... Orkin SH, Michelson A (July 1980). "Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia". Nature. ... The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta1 - 3'. GRCh38: Ensembl release ...
August 2005). "A newly discovered human alpha-globin gene". Blood. 106 (4): 1466-72. doi:10.1182/blood-2005-03-0948. PMC ... The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta1 - 3'. Higgs DR, Vickers MA, ... Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (April 1989). "A review of the molecular genetics of the human alpha-globin ... islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of ...
Globin superfamily - Members share an 8-alpha helix globular globin fold. Immunoglobulin superfamily - Members share a sandwich ...
"Regulation of Globin Gene Expression". Cite journal requires ,journal= (help) "World Renowned Geneticist Richard Myers to Speak ... Smaglik, Paul (2007-11-28). "Richard Myers, director of Hudson-Alpha Institute for Biotechnology, Huntsville, Alabama". Nature ... His team sought to understand globin gene expression, studying both cis- and trans-acting components that regulate ... Smaglik, Paul (2007-11-28). "Richard Myers, director of Hudson-Alpha Institute for Biotechnology, Huntsville, Alabama". Nature ...
Alpha-globin transcription factor CP2 is a protein that in humans is encoded by the TFCP2 gene. TFCP2 is also called Late SV40 ... Lim LC, Swendeman SL, Sheffery M (Feb 1992). "Molecular cloning of the alpha-globin transcription factor CP2". Molecular and ... and development expression of the alpha-globin transcription factor CP2". The Journal of Biological Chemistry. 269 (15): 11663- ... Zhou W, Clouston DR, Wang X, Cerruti L, Cunningham JM, Jane SM (Oct 2000). "Induction of human fetal globin gene expression by ...
These hubs were discovered during observation of activated alpha- and beta-globin loci. ACHs are formed through extensive DNA ... "Looping and interaction between hypersensitive sites in the active beta-globin locus". Molecular Cell. 10 (6): 1453-65. doi: ...
Proudfoot NJ, Maniatis T (1980). "The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene ... Orkin SH, Michelson A (1980). "Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia". Nature. 286 ( ... Safaya S, Rieder RF (1988). "Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion ... Hemoglobin, alpha pseudogene 1, also known as HBAP1, is a human gene. "Human PubMed Reference:". National Center for ...
For example, the two superfamilies of the "Globin-like" fold are: the Globin superfamily and alpha-helical ferredoxin ... Alpha and beta proteins (a+b) [53931] (376): Mainly antiparallel beta sheets (segregated alpha and beta regions) ... Class: Alpha and beta proteins (a/b) [51349] Mainly parallel beta sheets (beta-alpha-beta units). ... Alpha and beta proteins (a/b) [51349] (147): Mainly parallel beta sheets (beta-alpha-beta units) ...
In 1980, a study was conducted on the 3' UTR of the duplicated human alpha-globin genes. The untranslated region is seen in ... Michelson, A. M.; Orkin, S. H. (1980-11-01). "The 3' untranslated regions of the duplicated human alpha-globin genes are ... In 1978, the 5' UTR of the human gamma-globin mRNA was fully sequenced. ... untranslated region of human gamma-globin mRNA". Nucleic Acids Research. 5 (10): 3515-3522. doi:10.1093/nar/5.10.3515. ISSN ...
... defining the centromeric boundary of the human alpha-globin domain". Genomics. 71 (3): 307-14. doi:10.1006/geno.2000.6394. PMID ...
There are two subunits that make up the hemoglobin protein: beta-globins and alpha-globins. Beta-hemoglobin is created from the ... The β-globin gene is found on the short arm of chromosome 11. The association of two wild-type α-globin subunits with two ... The single nucleotide change in the beta-globin means that even the smallest of exertions on the part of the carrier results in ... Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid ...
Ribeiro, Daniela M.; Figueiredo, Maria S.; Costa, Fernando F.; Sonati, Maria F. (2003). "Haplotypes of alpha-globin gene ...
Differences in the regulated expression of cloned human alpha globin and beta globin genes introduced into MEL cells: the role ... Basis for regulating the expression of human alpha- and beta-globin genes. Discovery of a family of vertebrate genes encoding ... Transcriptional regulation of globin gene expression in the human erythroid cell line K562 », Science, (1983), 220, p. 1281- ... where he studied the molecular basis for the regulation of globin gene expression. In 1984, he joined the European Molecular ...
... two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin gene deletions). Deletion of ... it begins to produce alpha-globins at weeks 5-6 of development. When both of the HBA1 and HBA2 genes which code for alpha ... These gamma globins bind to form hemoglobin Barts. It is produced in the disease alpha-thalassemia and in the most severe of ... Table 1: α represents the presence of α-globin gene and- represents the deletion of α-globin gene. The chance of a fetus ...
"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... Mutations in the delta-globin gene are associated with Delta-thalassemia. Hemoglobin Human β-globin locus Thalassemia GRCh38: ... Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma-G - ... Two alpha chains plus two delta chains constitute HbA2, which with HbF comprises the remaining 3% of adult hemoglobin. ...
... β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB gene, which along with alpha globin (HBA ... Expression of beta globin and the neighbouring globins in the β-globin locus is controlled by single locus control region (LCR ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... The mutant alleles are subdivided into two groups: β0, in which no functional β-globin is made, and β+, in which a small amount ...
... ; Morris Goodman; G. William Moore (1972). "Descent of Mammalian Alpha Globin Chain Sequences Investigated by the ...
"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... The gamma globin genes (HBG1 and HBG2, this gene) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. GRCh38: Ensembl ... chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at ...
2002). "Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein". J. Biol. Chem. ... 2007). "Reversible hexacoordination of alpha-hemoglobin-stabilizing protein (AHSP)/alpha-hemoglobin Versus pressure. Evidence ... Alpha-hemoglobin-stabilizing protein is a protein that in humans is encoded by the ERAF gene. GRCh38: Ensembl release 89: ... 2006). "Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia". Ann. N. Y. Acad. Sci. 1054 ...
Kiledjian M, Wang X, Liebhaber SA (1995). "Identification of two KH domain proteins in the alpha-globin mRNP stability complex ... Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha- ...
... an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form ... Hemoglobin Human β-globin locus Hemoglobin alpha chains (two genes, same sequence): HBA1 HBA2 GRCh38: Ensembl release 89: ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains ...
... suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin ... as a component of the alpha-globin mRNA stability complex". Mol. Cell. Biol. 17 (8): 4870-6. doi:10.1128/MCB.17.8.4870. PMC ... "Identification of two KH domain proteins in the alpha-globin mRNP stability complex". EMBO J. 14 (17): 4357-64. doi:10.1002/j. ...
Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 ... Gonzalez-Redondo JM, Han IS, Gu YC, Huisman TH (1988). "Nucleotide sequence of the human theta 1-globin gene". Biochem. Genet. ...
Peptidylglycine alpha-amidating monooxygenase amidates peptide hormones by removing the glyoxylate residue from their c- ... "Phylogeny and Evolution of Selected Primates as Determined by Sequences of the ε-Globin Locus and 5′ Flanking Regions". ... Eipper BA, Stoffers DA, Mains RE (1992). "The biosynthesis of neuropeptides: peptide alpha-amidation". Annual Review of ... "Peptidylglycine alpha-amidating monooxygenase: a multifunctional protein with catalytic, processing, and routing domains" ...
TECTA: tectorin alpha (nonsyndromic deafness). *TH: tyrosine hydroxylase. *USH1C: Usher syndrome 1C (autosomal recessive, ... methemoglobinemia, beta-globin type. *Mixed Lineage Leukemia. *multiple endocrine neoplasia type 1 ...
Alpha globulins. .mw-parser-output .nobold{font-weight:normal}. serpins:. *alpha-1 (Alpha 1-antichymotrypsin, Alpha 1- ... The protein is composed of alpha helices and beta sheets that form two domains.[8] The N- and C- terminal sequences are ...
Feldmann M, Maini R (2001). "Anti-TNF alpha therapy of rheumatoid arthritis: what have we learned?". Annu Rev Immunol. 19 (1): ... Possible classes of heavy chains in antibodies include alpha, gamma, delta, epsilon, and mu, and they define the antibody's ... Streptococcal IgA1 protease, digestion, Fab and Fc fragments, and the complete amino acid sequence of the alpha 1 heavy chain ... and Fc regions and the role of N-glycosylation on Fc alpha receptor interactions". J Biol Chem. 273 (4): 2260-2272. doi:10.1074 ...
... belongs to the globin superfamily of proteins, and as with other globins, consists of eight alpha helices connected ... Wu G, Wainwright LM, Poole RK (2003). "Microbial globins". Advances in Microbial Physiology. Advances in Microbial Physiology. ...
"Entrez Gene: GATA1 GATA binding protein 1 (globin transcription factor 1)".. *^ a b c Da Costa L, O'Donohue MF, van Dooijeweert ... Alpha-granules contain various factors which contribute to blood clotting and other functions. In their absence, platelets are ... The Gray platelet syndrome is a rare congenital bleeding disorder caused by reductions or absence of alpha-granules in ... Martin DI, Tsai SF, Orkin SH (Mar 1989). "Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid- ...
Like other serpins, PAI-2 has three beta sheets (A, B, C) and nine alpha helices (hA-hI).[6][7] The structure of PAI-2 mutants ... gene are associated with basal and tumor necrosis factor-alpha-induced transcription in monocytes". European Journal of ... "Plasminogen activator inhibitor type 2 inhibits tumor necrosis factor alpha-induced apoptosis. Evidence for an alternate ... see also disorders of globin and globulin proteins. Retrieved from "https://en.wikipedia.org/w/index.php?title=Plasminogen_ ...
DNA binding by the alpha subunit of RNA polymerase". Science. 262 (5138): 1407-1413. Bibcode:1993Sci...262.1407R. doi:10.1126/ ... moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element". ... Subsite structure of UP elements and interactions with the carboxy-terminal domain of the RNA polymerase alpha subunit". Genes ...
Alpha-fetoprotein (alpha-fetoglobulin) is a fetal plasma protein that binds various cations, fatty acids and bilirubin. Vitamin ... A number of blood transport proteins are evolutionarily related, including serum albumin, alpha-fetoprotein, vitamin D-binding ... alpha-fetoprotein, and vitamin D-binding protein gene family". The Journal of Biological Chemistry. 269 (27): 18149-54. PMID ... alpha-fetoprotein, vitamin D-binding protein multigene family". Journal of Molecular Evolution. 29 (4): 344-354. doi:10.1007/ ...
You're already immune to alpha-1,3-galactosyl-galactose bonds. All humans are. Why not divert a fraction of those antibodies to ... "Enzymatic Amplification of β-globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia"-the ... re-targeting pre-existing antibodies to the surface of a pathogenic strep bacteria using an alpha-gal modified aptamer (" ... "Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia". ...
Globin synthesis defect *Alpha-, and beta-thalassemia. *HbE syndrome. *HbC syndrome. *Various other unstable hemoglobin ... Thalassemias, causing deficient globin synthesis[17]. *Congenital dyserythropoietic anemias, causing ineffective erythropoiesis ... unimpaired DNA globin synthesis,) which occur, for example, in alcoholism. In addition to the nonspecific symptoms of anemia, ...
There are alpha and beta lactalbumins; both are contained in milk.. Scientific studies suggest that certain types of ... alpha-1 (Alpha 1-antichymotrypsin, Alpha 1-antitrypsin). *alpha-2 (Alpha 2-antiplasmin) ...
Hemoglobin yang terkandung di dalamnya dipecah menjadi zat besi, globin, dan heme. Zat besi dan globin didaur ulang, sedangkan ... "Curcumin ameliorates rabbits's steatohepatitis via respiratory chain, oxidative stress, and TNF-alpha". Department of ... "Redox regulation of thyroid hormone-induced Kupffer cell-dependent IkappaB-alpha phosphorylation in relation to inducible ... with increases in activation of transcription factors NF-kappaB and AP-1 or with expression of tumor necrosis factor alpha". ...
Alpha globulins. .mw-parser-output .nobold{font-weight:normal}. serpins:. *alpha-1 (Alpha 1-antichymotrypsin, Alpha 1- ... Alpha-fetoprotein (alpha-fetoglobulin) is a fetal plasma protein that binds various cations, fatty acids and bilirubin. Vitamin ... A number of blood transport proteins are evolutionarily related, including serum albumin, alpha-fetoprotein, vitamin D-binding ... alpha-fetoprotein, and vitamin D-binding protein gene family". The Journal of Biological Chemistry. 269 (27): 18149-54. PMID ...
Hemoglobin kang kakandhut ing njeroné dipecah dadi dat wesi, globin, lan heme. Dat wesi lan globin didhaur ulang, éwadéné heme ... "Curcumin ameliorates rabbits's steatohepatitis via respiratory chain, oxidative stress, and TNF-alpha.". Department of ... "Redox regulation of thyroid hormone-induced Kupffer cell-dependent IkappaB-alpha phosphorylation in relation to inducible ... with increases in activation of transcription factors NF-kappaB and AP-1 or with expression of tumor necrosis factor alpha". ...
The alpha chain of hemoglobin contains 146 amino acid residues; substitution of the glutamate residue at position 6 with a ... The red and blue ribbons represent the protein globin; the green structures are the heme groups. ...
... shared by rabbit alpha(1)-globin and human cytokeratin 7". Journal of Virology. 76 (14): 7040-8. doi:10.1128/JVI.76.14.7040- ...
Alpha globulins. .mw-parser-output .nobold{font-weight:normal}. serpins:. *alpha-1 (Alpha 1-antichymotrypsin, Alpha 1- ... Orosomucoid (ORM) or alpha-1-acid glycoprotein (α1AGp,[1] AGP or AAG) is an acute phase (acute phase protein) plasma alpha- ... Alpha-1-acid glycoprotein has been identified as one of four potentially useful circulating biomarkers for estimating the five- ... there is a small increase in alpha-1-acid glycoprotein. The effect of these changes on drug protein binding and drug delivery, ...
The alpha chain of hemoglobin contains 146 amino acid residues; substitution of the glutamate residue at position 6 with a ... The red and blue ribbons represent the protein globin; the green structures are the heme groups. ... An amino acid consists of an alpha carbon atom attached to an amino group, -NH2, a carboxylic acid group, -COOH (although these ...
Tanabe O, Katsuoka F, Campbell AD, Song W, Yamamoto M, Tanimoto K, Engel JD (Jul 2002). "An embryonic/fetal beta-type globin ... Testicular receptor 4 has been shown to interact with Androgen receptor, Estrogen receptor alpha, and Hepatocyte nuclear factor ... "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97- ... "Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells". The ...
Another example occurs at the locus for the beta-globin component of hemoglobin, where the three molecular phenotypes of HbA/Hb ... March 2001). "Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute ... For example, in humans the Hb gene locus is responsible for the Beta-chain protein (HBB) that is one of the two globin proteins ...
The HbS gene defect is a mutation of a single nucleotide (A to T) of the β-globin gene replacing the amino acid glutamic acid ... Main articles: Thalassemia and Alpha-thalassemia. It has long been known that a kind of anemia, termed thalassemia, has a high ... is an abnormal hemoglobin with substitution of a lysine residue for glutamic acid residue of the β-globin chain, at exactly the ...
An ancestor globin gene from an ancient vertebrate split into two genes, alpha and beta, which ended up in two different ... Both alpha and beta further split into more independently evolving genes. All jawed fish show such alpha/beta split as ... Starting from any gene (e.g. the alpha haemoglobin), each gene duplication event could become a rendezvous point where ... In fact, jawless fishes, whenever investigated, do not possess split globin genes. As Dawkins explained in the chapter 'All ...
... alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic ... Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal ... Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter. ... alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic ...
In endothelial cells, the alpha chain of hemoglobin (hereafter, alpha globin) and endothelial NO synthase form a macromolecular ... We have developed an alpha globin mimetic peptide (named HbαX) that displaces endogenous alpha globin and increases ... In endothelial cells, the alpha chain of hemoglobin (hereafter, alpha globin) and endothelial NO synthase form a macromolecular ... Modulating Vascular Hemodynamics With an Alpha Globin Mimetic Peptide (HbαX) Hypertension. 2016 Dec;68(6):1494-1503. doi: ...
Influence of βS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia. Rev Bras Hematol ... Comment on "Influence of βS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia"☆ ... Levels of tumor necrosis factor alpha/cachectin (TNF alpha) in sera from patients with sickle cell disease. Acta Haematol. 1993 ... TNF-alpha and IL8:Serum levels and gene polymorphisms (308G,A and 251A,T) are associated with classical biomarkers and medical ...
Alpha Thalassemia is a common hereditary trait and disease among individuals of Asian heritage. Disease ranges in severity from ...
This assay can be used instead of Southern Blot analysis to determine the total number of intact alpha globin genes. ... Information (MCV, Blood Work, Age, Alpha Globin mutations detected, ethnicity). For other sample types please contact the ... HBA1 or HBA2 gene in patients or their family members suspected of having alpha thalassemia or who are carriers of alpha globin ... The assay can also be used in the prenatal diagnosis of alpha thalassemia. The assay does not determine the type or breakpoint ...
... alpha 3.7, -alpha 4.2, alpha Hphl, alpha Ncol, --MED, -(alpha)20.5, alpha alpha alpha anti3.7]. The electrophoretic patterns ... METHODS AND RESULTS A new set of PCR techniques, each based on primer(s) specific for a particular type of alpha globin gene ... They lead to the identification of all alpha globin disorders common in the Mediterranean area [- ... specific for the main alpha globin alterations as observed with this set of techniques, are presented. CONCLUSIONS Owing to ...
A major regulatory element required for expression of the human alpha-globin genes is located 40 kb upstream of the embryonic ... In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated ... In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated ... In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated ...
We address this issue by using as a highly informative system the duplicated alpha-globin genes in which ectopic recombination ... Finally, direct knowledge of germ-line deletion rates can give insights into the fitness of individuals with these alpha-globin ... Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. ...
Chromatin organisation at the alpha globin locus Brown JM., Babbs C., Roberts N., Jeziorska D., Graham B., Szczerbal I., Hughes ...
Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA ... DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. ... We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of ... unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin ...
The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β ... Alpha thalassaemia and extended alpha globin genes in Sri Lanka. Suresh S., Fisher C., Ayyub H., Premawardhena A., Allen A., ... The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β ... alpha-Globins, alpha-Thalassemia ... Alpha thalassaemia and extended alpha globin genes in Sri Lanka ...
... alpha-globin. Most significantly, approximately 50% of processed alpha-globin was sorted to the regulated pathway and secreted ... alpha-globin was not secreted but was rapidly and quantitatively degraded intracellularly with a t 1/2 of 4-5 min. Globin ... fused to alpha-globin. Control globin was translocated into the endoplasmic reticulum as determined by accurate cleavage of its ... The propeptide of preprosomatostatin mediates intracellular transport and secretion of alpha-globin from mammalian cells. T J ...
Alpha globin gene triplications result in three active alpha globin genes on a single chromosome.. Incidence: Carrier frequency ... Background Information: Alpha Globin (HBA1 and HBA2) Deletion/Duplication. Characteristics: Alpha thalassemia is caused by ... both a deletion and duplication within the alpha globin gene cluster may appear to have a normal number of alpha globin gene ... Alpha (+) thalassemia results from mutation of a single alpha2 globin gene (-a/aa) and is clinically asymptomatic (silent ...
Screening of Hb Barts in cord blood from Guangxi Province and its alpha-globin gene anal ... Screening of Hb Barts in cord blood from Guangxi Province and its alpha-globin gene analysis]. ...
A survey of Hb Bart in cord blood and the alpha-globin gene in South China. ... A survey of Hb Bart in cord blood and the alpha-globin gene in South China. ...
High-resolution X-ray study of deoxy recombinant human hemoglobins synthesized from beta-globins having mutated amino termini. ... Description: HEMOGLOBIN (DEOXY) (ALPHA CHAIN) protein , Length: 141 No structure alignment results are available for 1DXV.A, ... HIGH-RESOLUTION X-RAY STUDY OF DEOXY RECOMBINANT HUMAN HEMOGLOBINS SYNTHESIZED FROM BETA-GLOBINS HAVING MUTATED AMINO TERMINI. ...
Alpha globin gene triplications result in three active alpha globin genes on a single chromosome.. Non-deletional alpha globin ... Background Information for Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication Characteristics: Alpha thalassemia ... both a deletion and duplication within the alpha globin gene cluster may appear to have a normal number of alpha globin gene ... of three alpha globin genes (--/-) and results in hemolysis with Heinz bodies, moderate anemia, and splenomegaly. Hb Bart ...
... physiology of beta-globin variants and alpha-globin recombinants. Evolution 42: 681-688. ... Aguileta, G., J. P. Bielawski and Z. H. Yang, 2006 Proposed standard nomenclature for the alpha- and beta-globin gene families ... β-Globins produced by Hbbs mice migrate during electrophoresis as a dimer with α-globin and produce a single band (hence the S ... β-Globins produced by Hbbd mice migrate during electrophoresis as a dimer with α-globin and produce double bands (hence the D ...
We use cookies to ensure that we give you the best experience on our website. If you click Continue well assume that you are happy to receive all cookies and you wont see this message again. Click Find out more for information on how to change your cookie settings ...
A TEST OF NATURAL SELECTION ON ALPHA-GLOBIN VARIATION. *Storz, Jay F (PI) ... The objectives of the Andy are (1) to document geographic patterns of sequence variation in the a-globin gene region of P. ... This study will involve a molecular genetic analysis of a two-locus a-globin polymorphism in populations of P. maniculatw that ... globin variation using an array of newly developed statistical methods; (3) to determine the strength of epistatic selection ...
Using a construct with both the human alpha- and beta-globin genes and the beta-globin DCR, live mice with low-copy numbers ... Metabolic labeling experiments showed balanced mouse globin synthesis, but imbalanced human globin synthesis, with an alpha/ ... These results are discussed with relation to the coordinate regulation of alpha- and beta-globin synthesis in erythroid tissues ... we have been able to achieve high-level expression of the human alpha-globin gene in transgenic mice. Expression in fetal liver ...
Furthermore at least two non-functional pseudogenes within the cluster (psi zeta 1 and psi alpha 2) are associated with CpG ... The human embryonic zeta 2-globin gene is associated with an HTF island within its 3 portion rather than at the 5 end. ... islands in the alpha-globin complex and report here two unusual features: ... islands in the alpha-globin complex and report here two unusual features: The human embryonic zeta 2-globin gene is associated ...
alpha-Globins Grant support * HG003143/HG/NHGRI NIH HHS/United States * R01 HG003143/HG/NHGRI NIH HHS/United States ... The three-dimensional folding of the α-globin gene domain reveals formation of chromatin globules Nat Struct Mol Biol. 2011 Jan ... We applied this approach to the ENm008 domain on human chromosome 16, containing the α-globin locus, which is expressed in K562 ... The models accurately reproduce the known looping interactions between the α-globin genes and their distal regulatory elements ...
Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains. ... They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the ... Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. ... beta Globin; Non-alpha Globin Chain, Unspecified; Non alpha Globin Chain, Unspecified; beta Globins; beta-Globin ...
Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran Ebrahim Miri-Moghaddam 1 , Abass ... Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran Ebrahim Miri-Moghaddam et al. Int ... A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989;73(5):1081-1104. - PubMed ... globin gene. Conclusion : Knowing the alpha-genotype is helpful for genetic counseling, microcytic anemia discrimination and ...
Regulation of human alpha-globin gene expression and alpha-thalassemia. Ribeiro DM, Sonati MF. Ribeiro DM, et al. Genet Mol Res ... Incidence of alpha-globin gene defect in the Lebanese population: a pilot study Chantal Farra 1 , Rose Daher 2 , Rebecca Badra ... Incidence of alpha-globin gene defect in the Lebanese population: a pilot study Chantal Farra et al. Biomed Res Int. 2015. . ... Development of a quantitative real-time PCR assay for detection of unknown alpha-globin gene deletions. Fallah MS, Mahdian R, ...
Unbalanced production of α-globin in the presence of defective synthesis of β-globin is the primary mechanism for anaemia in β- ... have clearly demonstrated that direct suppression of α-globin and induction of γ-globin are effective in reducing the globin ... We further show that vorinostat exhibits these synergistic beneficial effects in globin gene expression at nanomolar ... in addition to its beneficial effects for patients with β-thalassaemia through induction of γ-globin, has the potential to ...
Globin synthesis defect *sickle cell disease. *Alpha-thalassemia, e.g. HbH disease ... Second, the breast-milk of some women contains a metabolite of progesterone called 3-alpha-20-beta pregnanediol. This substance ... Alpha-1-antitrypsin deficiency, which is commonly missed, and must be considered in DDx ... alpha 1-antitrypsin deficiency, and other pediatric liver diseases should be considered. The evaluation for these will include ...
Mild sickle cell anemia associated with alpha globin mutant alpha montgomery. The American Journal of Medicine. 1989;86(2 C): ... Mild sickle cell anemia associated with alpha globin mutant alpha montgomery. In: The American Journal of Medicine. 1989 ; Vol ... Mild sickle cell anemia associated with alpha globin mutant alpha montgomery. Josef T. Prchal, Charlie M. Scott, Samuel Rahbar ... Mild sickle cell anemia associated with alpha globin mutant alpha montgomery. / Prchal, Josef T.; Scott, Charlie M.; Rahbar, ...
Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). ... Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent. ... The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of ... People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms. ...
  • Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. (uniprot.org)
  • This assay can be used instead of Southern Blot analysis to determine the total number of intact alpha globin genes. (specialtylabs.com)
  • however, complete knowledge of the phenotypic, genotypic and epidemiological features of these thalassemias has not yet been achieved for a number of reasons: the frequent absence of a thalassemic hematologic picture, the lack of a specific characteristic comparable to the Hb A2 increase for beta thalassemias, and the almost complete homology between the two alpha genes. (semanticscholar.org)
  • Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling. (semanticscholar.org)
  • A major regulatory element required for expression of the human alpha-globin genes is located 40 kb upstream of the embryonic zeta-globin gene. (asm.org)
  • We address this issue by using as a highly informative system the duplicated alpha-globin genes in which ectopic recombination can lead to gene deletions, often very prevalent in populations affected by malaria, as well as reduplications. (le.ac.uk)
  • We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. (ox.ac.uk)
  • DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. (ox.ac.uk)
  • Alpha thalassaemia and extended alpha globin genes in Sri Lanka. (ox.ac.uk)
  • The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β thalassaemia in Sri Lanka. (ox.ac.uk)
  • Alpha (0) thalassemia (trait) is caused by mutation of both alpha2 globin genes (-a/-a), or mutations in the alpha1 and alpha2 globin genes on the same chromosome, (--/aa) and results in mild microcytic anemia. (aruplab.com)
  • Hemoglobin H disease occurs due to mutation of three alpha globin genes (--/-a) and results in hemolysis with Heinz bodies, moderate anemia, and splenomegaly. (aruplab.com)
  • Hb Bart Hydrops Fetalis Syndrome results when mutations occur in all four alpha globin genes (--/--) and is lethal in the fetal or early neonatal period. (aruplab.com)
  • Alpha globin gene triplications result in three active alpha globin genes on a single chromosome. (aruplab.com)
  • This assay does not assess for non-deletional mutations within the coding or regulatory regions of the alpha globin cluster genes. (aruplab.com)
  • Sequence analysis will not detect all regulatory region mutations or mutations in alpha globin cluster genes other than HBA1 and HBA2 . (aruplab.com)
  • Expression in fetal liver and blood is copy number dependent and at levels comparable to that of the endogenous mouse alpha-globin genes. (ox.ac.uk)
  • Using a construct with both the human alpha- and beta-globin genes and the beta-globin DCR, live mice with low-copy numbers were obtained. (ox.ac.uk)
  • Both human globin genes are expressed at high levels in adult red cells to give human hemoglobin HbA in amounts equal to or greater than endogenous mouse hemoglobin. (ox.ac.uk)
  • Here we report a survey of nucleotide variation in the adult globin genes of house mice from South America. (genetics.org)
  • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). (medlineplus.gov)
  • The gradual activation of the α-globin genes in well-defined cell populations has enabled investigation of the structural and functional roles of its enhancers, promoters and boundary elements. (ox.ac.uk)
  • The models accurately reproduce the known looping interactions between the α-globin genes and their distal regulatory elements. (nih.gov)
  • In addition to the embryonic (ζ) and adult (α) genes, the cloned contig contains the complete N-methylpurine-DNA glycosylase (MPG) gene, the α-globin-positive regulatory element (mHS-26), and a previously unidentified hypervariable region (named the mouse α-HVR). (houstonmethodist.org)
  • The duplicated human alpha globin genes (alpha 2-alpha 1) were linked to the alpha globin locus Positive Regulatory Element (PRE) and stably transfected into murine erythroleukaemia cells. (ox.ac.uk)
  • BackgroundIn homeotherms, the alpha-globin gene clusters are located within permanently open genome regions enriched in housekeeping genes. (duhnnae.com)
  • Terminal erythroid differentiation results in dramatic upregulation of alpha-globin genes making their expression comparable to the rRNA transcriptional output. (duhnnae.com)
  • Little is known about the influence of the erythroid-specific alpha-globin gene transcription outburst on adjacent, widely expressed genes and large-scale chromatin organization. (duhnnae.com)
  • Full activation of the alpha-globin gene transcription in differentiated erythroid cells is correlated with upregulation of several adjacent housekeeping genes and the emergence of abundant intergenic transcription. (duhnnae.com)
  • Alpha-thalassemia is one of the most prevalent hemoglobin disorders in the world and it is a common hereditary condition caused by deletion of one or more alpha-globin genes . (bvsalud.org)
  • Data analysis was conducted using comparative threshold method [ delta delta CT] for determination of Gene dosage of alpha1- globin and alpha2- globin genes . (bvsalud.org)
  • In contrast, durable up-regulation of alpha- and beta-globin genes was not detected at the hypothalamus, cortex, cerebellum, liver and testis. (ku.dk)
  • In summary, alpha- and beta-globin genes may prove as sensitive, pituitary-specific biomarkers of exposure to estrogenic (and/or anti-androgenic) compounds at critical periods of sex development, whose potential in the assessment of endocrine disrupting events at the HP unit merits further investigation. (ku.dk)
  • Sequence data from the regions adjacent to the breakpoint indicate that the recombination event that caused this deletion occurred between the alpha 1-gene and an unusual AluI sequence located between the embryonic zeta genes. (ashpublications.org)
  • Using a construct with both the human alpha- and beta-globin genes. (ox.ac.uk)
  • If you look at contemporary humans," Hardison added, "we have several alpha-globin genes and several beta-globin genes. (psu.edu)
  • The alpha-globin genes are on chromosome 16, and the beta-globin genes are on chromosome 11. (psu.edu)
  • Normally, each person has four genes for alpha globin. (kidshealth.org)
  • Alpha thalassemia happens when one or more of the genes that control the making of alpha globins is absent or defective. (kidshealth.org)
  • Two missing or mutated genes is a condition called alpha thalassemia minor or having alpha thalassemia trait . (kidshealth.org)
  • Four missing or mutated genes is a condition known as alpha thalassemia major or hydrops fetalis . (kidshealth.org)
  • Here we investigate these possibilities by conducting a combined evolutionary and functional analysis of duplicated globin genes in natural populations of deer mice ( Peromyscus maniculatus ) that are adapted to different elevational zones. (pnas.org)
  • We have analyzed the nuclear positioning of the coordinately regulated α- and β-globin genes and show that the gene-dense chromatin surrounding the human α-globin genes is frequently decondensed, independent of transcription. (rupress.org)
  • Against this background, we show the frequent juxtaposition of active α- and β-globin genes and of homologous α-globin loci that occurs at nuclear speckles and correlates with transcription. (rupress.org)
  • The same degree of proximity does not occur between human β-globin genes or between murine globin genes, which are more constrained to their chromosome territories. (rupress.org)
  • Our findings suggest that the distribution of globin genes within erythroblast nuclei is the result of a self-organizing process, involving transcriptional status, diffusional ability of chromatin, and physical interactions with nuclear proteins, rather than a directed form of higher-order control. (rupress.org)
  • To address whether nuclear organization has a functional role, we have chosen to follow the behavior of the coregulated α- and β-globin genes in primary human erythroblasts during terminal erythroid differentiation ( Wickramasinghe, 1975 ). (rupress.org)
  • This balance is achieved despite the fact that the α- and β-globin genes lie on separate chromosomes and in very different chromatin contexts. (rupress.org)
  • The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin. (wikipedia.org)
  • Many CRMs have been mapped within the cluster of genes encoding β-like globins expressed in embryonic (HBE1), fetal (HBG1 and HBG2), and adult (HBB and HBD) erythroid cells. (wikipedia.org)
  • Alpha thalassemia is the result of changes in the genes for the alpha globin component of hemoglobin. (encyclopedia.com)
  • Possibilities include inserting a normal beta-globin gene into the patient's bone marrow, or using drugs to reactivate the genes that produce fetal hemoglobin. (medicalnewstoday.com)
  • severe anemia -recessive gene inherited condition -alpha thalassemia caused by either a genetic mutation or a deletion of certain key genes. (prezi.com)
  • We are analyzing the alpha globin genes of individuals of many ethnic groups and will compare to try to define the origin of thalassemia in these individuals of European extraction. (clinicaltrials.gov)
  • In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. (healthline.com)
  • In beta thalassemia, the beta globin genes are affected. (healthline.com)
  • Two genes, one from each parent, are inherited to make beta globin. (healthline.com)
  • It develops when beta globin genes are missing. (healthline.com)
  • It develops because of alterations in both beta globin genes. (healthline.com)
  • In order to make alpha globin, you need to have four genes, two from each parent. (healthline.com)
  • Hemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these genes. (healthline.com)
  • This condition develops when all four alpha globin genes are altered or missing. (healthline.com)
  • In alpha minor cases, two genes are missing. (healthline.com)
  • Four conditions make up the α-thalassemias, defined by the number of inherited deletions of the four alpha globin genes. (cdc.gov)
  • In order to determine the diagnostic accuracy of PCR in diseases due to gross gene deletion, a total of 180 fetuses at risk of homozygous South-East Asian deletion (SEA) of alpha-globin genes were included for study. (biomedsearch.com)
  • c) hemoglobin H disease due to deletion of three of the four alpha genes (- -/- ), and (d) Barts hydrops fetalis, a fatal hemoglobin produced due to deletion of all four alpha genes (- -/- -) [ 5 ]. (hindawi.com)
  • In adults, during the later stages of erythroid differentiation, the genes in both the alpha and beta globin loci are expressed at exceptionally high rates. (hstalks.com)
  • How the alpha and beta globin genes achieve this balanced protein production is not known. (hstalks.com)
  • In endothelial cells, the alpha chain of hemoglobin (hereafter, alpha globin) and endothelial NO synthase form a macromolecular complex, providing a sink for NO directly adjacent to the production source. (nih.gov)
  • Sickle cell anemia (SCA) is a monogenic disorder characterized by homozygous inheritance of an abnormal hemoglobin molecule, hemoglobin S (Hb S), due to the substitution of glutamic acid for valine at position 6 of the beta globin chain. (scielo.br)
  • 1 , 2 SCA is characterized by a variable clinical course and differences in response to medication, reflecting its complex pathophysiology and suggesting that it can be affected by modulator factors such as the haplotypes of the beta globin chain or fetal hemoglobin (Hb F) levels. (scielo.br)
  • This is the case of hydroxyurea (HU), it increases the total intracellular hemoglobin, γ-globin mRNA and Hb F levels. (scielo.br)
  • alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis. (semanticscholar.org)
  • Alpha thalassemia is caused by decreased or absent synthesis of the hemoglobin alpha-chain resulting in variable clinical presentations. (aruplab.com)
  • High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human hemoglobin in murine erythrocytes. (ox.ac.uk)
  • The alternative two-locus β-globin haplotypes are associated with pronounced differences in intraerythrocyte glutathione and nitric oxide metabolism, suggesting a possible mechanism for selection on hemoglobin function. (genetics.org)
  • Electrophoretic surveys of hemoglobin polymorphism among inbred strains of house mice have revealed two main β-globin variants, HBB-S and HBB-D. Strains that carry the Hbb s haplotype ( e.g . (genetics.org)
  • Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains. (curehunter.com)
  • A-globin locus mRNA expression (alpha-, mu-, theta-, zeta-, globin) shown in Figure 1B demonstrated no significant Gracillin changes in mRNA levels compared to controls.Analysis of Hemoglobin and Cellular Phenotype upon Completion of Cultured DifferentiationHPLC was performed from 1.56106 cells collected from control and beta-KD cells on ��-Sitosterol ��-D-glucoside chemical information culture day 21 for measurement of adult (HbA) and fetal hemoglobin (HbF). (piminhibitor.com)
  • In addition, hemoglobin electrophoresis at alkaline pH on agarose gel showed normal age profiles with 82.7% Hb F, 17.2% Hb A1, and 0% Hb S. Exon sequencing was conducted for the α-globin chain of hemoglobin because of the cyanosis at birth. (biomedcentral.com)
  • 1989. "High-Level, Erythroid-Specific Expression of the Human Alpha-Globin Gene in Transgenic Mice and the Production of Human Hemoglobin in Murine Erythrocytes. (ox.ac.uk)
  • It's called hemoglobin," Hardison continued, "because a molecule called a heme, which has iron in it, snuggles right in between the helices of globin proteins. (psu.edu)
  • Hemoglobin comes in at about 500 million years ago, and 50 million years later, its globin component split into alpha and beta subunits. (psu.edu)
  • Fetal hemoglobin has two alpha chains and two gamma chains. (plos.org)
  • Hemoglobin is made up of heme and globin. (encyclopedia.com)
  • The type of hemoglobin found in healthy adults contains two alpha chains and two beta chains. (encyclopedia.com)
  • Like HbA, fetal hemoglobin contains a pair of alpha chains. (encyclopedia.com)
  • The beta globin allele that leads to sickle cell disease is called the hemoglobin S (HbS) allele. (encyclopedia.com)
  • The name hemoglobin is derived from the words heme and globin, reflecting the fact that each subunit of hemoglobin is a globular protein with an embedded heme group. (wikipedia.org)
  • Hemoglobin consists of protein subunits (the globin molecules), and these proteins, in turn, are folded chains of a large number of different amino acids called polypeptides. (wikipedia.org)
  • A multilocus analysis of nucleotide polymorphism and linkage disequilibrium revealed that high-altitude adaptation of deer mouse hemoglobin involves parallel functional differentiation at multiple unlinked gene duplicates: two α-globin paralogs on chromosome 8 and two β-globin paralogs on chromosome 1. (pnas.org)
  • The two-locus β-globin haplotype that predominates at high altitude is associated with suppressed DPG-sensitivity (and hence, increased hemoglobin-O 2 affinity), which enhances pulmonary O 2 loading under hypoxia. (pnas.org)
  • All hemoglobin consists of two parts: heme and globin). (medicinenet.com)
  • Genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. (studystack.com)
  • Hemoglobin is made of two proteins, alpha globin and beta globin. (hon.ch)
  • In beta-thalassemia, genetic defects affect the production of the beta globin protein, reducing levels of hemoglobin in the blood. (hon.ch)
  • Usual adult hemoglobin is made up of three components: alpha globin, beta globin, and heme. (encyclopedia.com)
  • It is caused by a change in the gene for the beta globin component of hemoglobin. (encyclopedia.com)
  • There are two main types of alpha thalassemia disease: hemoglobin H disease and alpha thalassemia major. (encyclopedia.com)
  • The frequency of hemoglobin H disease and alpha thalassemia major depends on the type of alpha thalassemia trait. (encyclopedia.com)
  • Definition: Thalassemia is a blood disorder that is inherited through a defect in a gene that aids in the production of alpha globin or beta globin proteins, found in Hemoglobin. (prezi.com)
  • The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult Hemoglobin. (novusbio.com)
  • The normal adult Hemoglobin tetramer consists of two alpha chains and two beta chains. (novusbio.com)
  • Inherited hemoglobin disorders like alpha thalassemia and sickle gene are common in the Indian subcontinent. (hindawi.com)
  • Alpha thalassemia intermedia, or hemoglobin H disease, causes hemolytic anemia. (aafp.org)
  • Alpha thalassemia major with hemoglobin Bart's usually results in fatal hydrops fetalis. (aafp.org)
  • Persons with thalassemia should be referred for preconception genetic counseling, and persons with alpha thalassemia trait should consider chorionic villus sampling to diagnose infants with hemoglobin Bart's, which increases the risk of toxemia and postpartum bleeding. (aafp.org)
  • Hemoglobin consists of an iron-containing heme ring and four globin chains: two alpha and two nonalpha. (aafp.org)
  • Hemoglobin consists of 4 globin polypeptide chains. (aacc.org)
  • Adult hemoglobin A consists of 2 alpha chains and 2 beta chains (α2β2). (aacc.org)
  • In mammals, the alpha and beta globin loci encode the polypeptides that form the heteromeric hemoglobin protein molecule. (hstalks.com)
  • Hemoglobin is made of two proteins: alpha globin and beta globin, and each is encoded by a different gene. (livescience.com)
  • This test ca be used to detect the presence of absence of large deletions in the HBA1 or HBA2 gene in patients or their family members suspected of having alpha thalassemia or who are carriers of alpha globin deletions. (specialtylabs.com)
  • Finally, direct knowledge of germ-line deletion rates can give insights into the fitness of individuals with these alpha-globin gene deletions, providing a new approach to investigating historical levels of selection operating in human populations. (le.ac.uk)
  • Detect common, rare, and novel deletions or duplications of the alpha globin gene cluster. (aruplab.com)
  • Sequencing of both HBA1 and HBA2 may not be possible in individuals harboring large alpha globin deletions on both alleles. (aruplab.com)
  • Samples were screened for the 21 most common α-globin deletions and point mutations reported worldwide, through multiplex Polymerase Chain Reaction (PCR) and Reverse-Hybridization technique. (cdc.gov)
  • A total of 190 normal subjects (voluntary blood donors ), 183 individuals with heterozygous beta-thalassaemia and 19 with homozygous beta-thalassaemia were screened for -alpha 3.7, -alpha 4.2 deletions and for triplication of alpha gene (alpha alpha alpha anti 3.7). (bvsalud.org)
  • Common alpha-thalassemia deletions like 3.7 kb, 4.2 kb, 20.5 kb and Med can be detected by Multiplex PCR . (bvsalud.org)
  • Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
  • Pathogenic mutations in the alpha globin gene cluster. (aruplab.com)
  • Rare syndromic or acquired forms of alpha thalassemia associated with ATRX mutations will not be detected. (aruplab.com)
  • Five mutations were identified, the most frequent one was -α (3.7) (rightward) with a frequency of 76.5%, followed by α (-5 nt) (16.8%), α2/ Codon 19(-G) (4%), -α (4.2) (leftward)(2.4%), - -MED (0.3%) among mutated alleles of the α -globin gene. (cdc.gov)
  • Gap- PCR is a robust, simple, rapid and non-radioactive technique thus useful in diagnostic laboratories for the detection of common alpha-thalassaemia mutations . (bvsalud.org)
  • The molecular defects causing β-thalassemia are point mutations predominantly found within and around the β-globin gene which result in reduced or absent synthesis of β-globin 10 . (nature.com)
  • The clinical and genetic data accumulated over several decades through naturally occurring human mutations have identified, two independent pathways that could counter-act the globin imbalance in order to ameliorate the severity of β-thalassaemia 12 . (nature.com)
  • Among these variants, α-globin chain mutations such as Hb M Boston present cyanosis from birth while other variants usually manifest later in life. (biomedcentral.com)
  • Naturally-occurring mutations show that coordinated regulation of the two loci is required, since imbalance between the alpha and beta globin chains leads to anemia. (hstalks.com)
  • Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. (ox.ac.uk)
  • Metabolic labeling experiments showed balanced mouse globin synthesis, but imbalanced human globin synthesis, with an alpha/beta biosynthetic ratio of approximately 0.6. (ox.ac.uk)
  • These results are discussed with relation to the coordinate regulation of alpha- and beta-globin synthesis in erythroid tissues. (ox.ac.uk)
  • Unbalanced production of α-globin in the presence of defective synthesis of β-globin is the primary mechanism for anaemia in β-thalassaemia. (nature.com)
  • Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains. (aafp.org)
  • The thalassemias (named from the Greek word for sea, thalassa 1 ) are a group of inherited autosomal recessive hematologic disorders 2 that cause hemolytic anemia because of the decreased or absent synthesis of a globin chain. (aafp.org)
  • Hemoglobinopathies typically have at least one amino acid substitution leading to synthesis of a variant globin chain. (aacc.org)
  • Thalassemias, on the other hand, involve perturbation of the rate of globin chain synthesis (1) . (aacc.org)
  • This leads to a relative excess synthesis of the normal globin chain. (aacc.org)
  • SCA patients at steady state have chronically elevated levels of tumor necrosis factor alpha (TNF-α), interleukins (ILs) such as IL-1b, IL-6 and IL-8, C-reactive protein and soluble adhesion molecules. (scielo.br)
  • In vivo footprinting of the human alpha-LCR element carried on chromosome 16 in a mouse erythroleukemia cell environment revealed protein occupancy at GATA-1, AP-1/NF-E2, and CACC/GGTGG motifs, specific differences compared with in vitro protein binding, and distinct changes in one region upon dimethyl sulfoxide-induced cellular maturation. (asm.org)
  • In addition, we have demonstrated that two AP-1 motifs in the alpha-LCR element which are occupied in vivo bind purified mouse NF-E2 protein in vitro. (asm.org)
  • In contrast to the control globin, approximately 30% of the somatostatin propeptide-globin fusion protein was transported to the distal elements of the Golgi apparatus where it was endoproteolytically processed. (rupress.org)
  • Levels of nucleotide polymorphism and linkage disequilibrium at the two β-globin paralogs suggest a complex history of diversity-enhancing selection that may be responsible for long-term maintenance of alternative protein alleles. (genetics.org)
  • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. (medlineplus.gov)
  • In 1956, protein chemist Vernon Ingram chopped up the 146-amino-acid-long beta globin subunit and meticulously sequenced the pieces, and found the sickle cell mutation. (plos.org)
  • Globin, which holds the heme and influences how easily it stores and releases oxygen, is a protein consisting of two pairs of polypeptide chains. (encyclopedia.com)
  • The molecule also carries the important regulatory molecule nitric oxide bound to a globin protein thiol group, releasing it at the same time as oxygen. (wikipedia.org)
  • The globin part of Hb A has 4 protein sections called polypeptide chains. (medicinenet.com)
  • Although both classes of thalassemia affect the same protein, the alpha and beta thalassemias are distinct diseases that affect the body in different ways. (encyclopedia.com)
  • The first layer is composed of three alpha helices (residues 3-13, 24-34 and 50-60) from the N-terminal half of the protein. (bionity.com)
  • Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. (ox.ac.uk)
  • It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion. (ox.ac.uk)
  • Multiplex ligation-dependent probe amplification (MLPA) of the alpha globin gene cluster ( HBZ, HBM, HBA2, HBA1, HBQ1 ) and its HS-40 regulatory region. (aruplab.com)
  • Individuals carrying both a deletion and duplication within the alpha globin gene cluster may appear to have a normal number of alpha globin gene copies. (aruplab.com)
  • We have characterised a cluster of CpG rich (HTF) islands in the alpha-globin complex and report here two unusual features: The human embryonic zeta 2-globin gene is associated with an HTF island within its 3' portion rather than at the 5' end. (ox.ac.uk)
  • Furthermore at least two non-functional pseudogenes within the cluster (psi zeta 1 and psi alpha 2) are associated with CpG rich islands. (ox.ac.uk)
  • The mouse alpha-globin cluster: a paradigm for studying genome regulation and organization. (ox.ac.uk)
  • As blood stem cells undergo lineage specification and differentiation to form red blood cells, the chromatin structure and expression of the α-globin cluster change. (ox.ac.uk)
  • Recent studies of gene regulatory processes involving these elements at the mouse α-globin cluster have brought new insights into the general principles underlying the three-dimensional structure of the genome and its relationship to gene expression throughout time. (ox.ac.uk)
  • A 95-kb region of the mouse genome spanning the entire α-globin gene cluster was isolated as overlapping cosmid clones and characterized. (houstonmethodist.org)
  • Here, we have analyzed the total transcription output, the overall chromatin contact profile, and CTCF binding within the 2.7 Mb segment of chicken chromosome 14 harboring the alpha-globin gene cluster in cultured lymphoid cells and cultured erythroid cells before and after induction of terminal erythroid differentiation. (duhnnae.com)
  • An extended chromosome region encompassing the alpha-globin cluster becomes significantly decompacted in differentiated erythroid cells, and depleted in CTCF binding and CTCF-anchored chromatin loops, while the sub-TAD harboring alpha-globin gene cluster and the upstream major regulatory element MRE becomes highly enriched with chromatin interactions as compared to lymphoid and proliferating erythroid cells. (duhnnae.com)
  • It results from a deletion that removes 20.5 kilobases of DNA from within the alpha-globin gene cluster. (ashpublications.org)
  • The alpha-globin gene domain and the neighboring loci reside within the A-like chromatin compartment in both lymphoid and erythroid cells and become further segregated from the upstream gene desert upon terminal erythroid differentiation. (duhnnae.com)
  • In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction. (asm.org)
  • We then developed a quantitative reverse transcriptase, polymerase chain reaction assay to map alpha 2 primary transcripts using primer pairs derived from different parts of the alpha 2 globin gene and its 3' flanking region. (ox.ac.uk)
  • Misdiagnosis of homozygous alpha-thalassaemia 1 may occur if polymerase chain reaction alone is used in prenatal diagnosis. (biomedsearch.com)
  • They include epsilon-globin, gamma-globin, delta-globin and beta-globin. (curehunter.com)
  • This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. (wikipedia.org)
  • Coexistence of rare variant HbD Punjab [α2β2(121(Glu→Gln))] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India. (semanticscholar.org)
  • Leicester Research Archive: Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. (le.ac.uk)
  • Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. (le.ac.uk)
  • Rapid detection of alpha + thalassaemia deletion & alpha-globin gene triplication by Gap-PCR in Indian subjects. (bvsalud.org)
  • The use of normal and mutant primers in Gap- PCR revealed eight (4.2%) normal individuals, 22 (12%) individuals with heterozygous beta-thalassaemia and 1 (5.2%) with homozygous beta-thalassaemia as carriers of single- -alpha 3.7 deletion. (bvsalud.org)
  • However, none of the studied samples revealed the presence of -alpha 4.2 deletion. (bvsalud.org)
  • A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia. (medscape.com)
  • It most frequently results in a mild form of alpha thalassemia due to single gene deletion from the chromosome-16 [ 6 ]. (hindawi.com)
  • These people, who have two different alleles of the beta globin gene, are said to be heterozygous. (encyclopedia.com)
  • loss of 3 of the four alpha alleles. (studystack.com)
  • This unbalanced production of α- and β-like globin chains leads to precipitation of free α-globin chains in red blood cells (RBC) and their precursors to cause haemolysis and ineffective erythropoiesis which are considered as the primary pathophysiological mechanism for the anaemia in thalassaemia 11 . (nature.com)
  • It consists of two alpha chains and two beta chains. (plos.org)
  • Globin can contain several different types of polypeptide chains, termed alpha, beta, and gamma. (encyclopedia.com)
  • Two of these chains are identical and are designated the alpha chains. (medicinenet.com)
  • The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains. (medicinenet.com)
  • In persons with beta thalassemia, there is reduced or absent production of beta globin chains. (medicinenet.com)
  • HbF has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from the effects of thalassemia major. (medicinenet.com)
  • inactivation of all four alpha globin chains. (studystack.com)
  • Imbalances of globin chains cause hemolysis and impair erythropoiesis. (aafp.org)
  • Two so-called beta-like globin chains and two alpha-like globin chains. (hstalks.com)
  • In each tetramer, the four globin chains are held together by noncovalent attractions. (hstalks.com)
  • Altogether, clarifies Goldstrohm, humans can make six different hemoglobins-three during the embryo stage, one as a fetus, and two as adults-using the different forms of globins. (psu.edu)
  • Hematopoietic transcription factor GATA-2 promotes upregulation of alpha globin and cell death in FL5.12 cells. (novartis.com)
  • Sickle cell disease results from a change in codon six in the beta globin gene of CTC to CAC, which replaces the amino acid glutamic acid with valine. (plos.org)
  • However, there are different types of alpha thalassemia traits within these populations. (encyclopedia.com)
  • Symptoms will not show until the age of 6 months in most infants with beta thalassemia and some types of alpha thalassemia. (medicalnewstoday.com)
  • Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.com)
  • And even among the beta-globin gene family, we have embryonic, fetal, and adult forms. (psu.edu)
  • Preferred first-tier genetic test for confirmation of suspected alpha thalassemia or alpha thalassemia trait. (aruplab.com)
  • Comprehensive genetic test for detection of alpha thalassemia or alpha thalassemia trait. (aruplab.com)
  • This study will involve a molecular genetic analysis of a two-locus a-globin polymorphism in populations of P. maniculatw that are distributed across steep elevational gradients in montane regions of western North America. (nebraska.edu)
  • Clinical genetic data accumulated over three decades have clearly demonstrated that direct suppression of α-globin and induction of γ-globin are effective in reducing the globin chain imbalance in erythroid cells hence improving the clinical outcome of patients with β-thalassaemia. (nature.com)
  • Investigation into the functional significance of the deer mouse β-globin polymorphism was motivated by the results of population genetic analyses which revealed evidence for a history of divergent selection between elevational zones. (pnas.org)
  • Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice. (ox.ac.uk)
  • The juxtaposition and interaction of these factors with each other, and with accessory proteins not directly in contact with DNA, are likely to account for the relative position independence of the upstream globin regulatory elements. (asm.org)
  • High Glucose and Insulin Promote O-GlcNAc Modification of Proteins, Including Alpha-Tubulin", Am J Physiol Endocrinal Metab, 284:E424-E434, 2003. (freepatentsonline.com)
  • The proteins are named globins, I learned later, reading Goldstrohm's thesis, because they're globular in shape. (psu.edu)
  • At first blush, these globin proteins look like each other," Hardison said. (psu.edu)
  • We further show that vorinostat exhibits these synergistic beneficial effects in globin gene expression at nanomolar concentrations without perturbing erythroid expansion, viability, differentiation or the transcriptome. (nature.com)
  • We show that vorinostat directly reduces the production of α-globin whilst inducing the expression of γ-globin in human erythroid cells without perturbing erythroid proliferation, viability, differentiation or global gene expression. (nature.com)
  • We previously performed a small molecule screen using Fluidigm high throughput qPCR platform to identify compounds that alter globin gene expression in human erythroid cells to identify compounds that produce favourable effects for β-thalassaemia. (nature.com)
  • We have developed an alpha globin mimetic peptide (named HbαX) that displaces endogenous alpha globin and increases bioavailable NO for vasodilation. (nih.gov)
  • By binding to endothelial NO synthase and displacing endogenous alpha globin, HbαX modulates important metrics of vascular function, increasing vasodilation and flow in the resistance vasculature. (nih.gov)
  • Induction of alpha- and beta-globin mRNA expression at the pituitary by neonatal exposure to estrogen was demonstrated as dose-dependent and it was persistently detected up to puberty. (ku.dk)
  • and (4) to determine the strength of selection on a-globin variation relative to the rate of countervailing gene flow between high and low-altitude populations. (nebraska.edu)
  • It is well established that the Mediterranean and Arab populations are at high risk for thalassemias in general and for alpha-thalassemia in particular. (cdc.gov)
  • α2-globin gene sequencing showed a single-point variant causing Hb M Boston. (biomedcentral.com)
  • A): a new silent ß-globin gene variant found in coexistence with a-thalassemia in a family of African origin. (medscape.com)
  • Approximately 5 percent of the world's population has a globin variant, but only 1.7 percent has alpha or beta thalassemia trait. (aafp.org)
  • Patients with coinheritance of alpha thalassemia have a milder clinical course because they have a less severe alpha-beta chain imbalance. (medscape.com)
  • Alpha Thalassemia is a common hereditary trait and disease among individuals of Asian heritage. (specialtylabs.com)
  • Alpha-thalassemia trait is seen with increased frequency in the same ethnic groups. (encyclopedia.com)
  • No medications are needed for silent carriers or individuals with alpha thalassemia trait. (medscape.com)
  • Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymptomatic and require no treatment. (aafp.org)
  • People with alpha thalassemia minor usually don't have any symptoms at all, but can pass thalassemia on to their children. (kidshealth.org)
  • Both alpha and beta thalassemia contain thalassemia minor and thalassmia major. (prezi.com)
  • The condition is classified as either alpha or beta thalassemia minor. (healthline.com)
  • We applied this approach to the ENm008 domain on human chromosome 16, containing the α-globin locus, which is expressed in K562 cells and silenced in lymphoblastoid cells (GM12878). (nih.gov)
  • When a child has alpha thalassemia, there is a change in chromosome 16. (kidshealth.org)
  • Alpha globin is made on chromosome 16. (kidshealth.org)
  • So, if any gene that tells chromosome 16 to produce alpha globin is missing or mutated, less alpha globin is made. (kidshealth.org)
  • A PCR-based strategy to detect the common severe determinants of alpha thalassaemia. (semanticscholar.org)
  • Amplified fragment of 1.8 kb indicated the presence of alpha gene triplication (alpha alpha alpha anti 3.7) in 4 subjects with heterozygous beta-thalassaemia. (bvsalud.org)
  • Here, we show that the histone deacetylase inhibitor drug, vorinostat, in addition to its beneficial effects for patients with β-thalassaemia through induction of γ-globin, has the potential to simultaneously suppress α-globin. (nature.com)
  • Alpha thalassaemia in tribal communities of coastal Maharashtra, India. (medscape.com)
  • Alpha(+)-thalassaemia and malarial anaemia. (medscape.com)
  • We surveyed nucleotide polymorphism in two closely linked α-globin paralogs and two closely linked β-globin paralogs to test whether patterns of variation are consistent with a model of long-term balancing selection. (genetics.org)
  • Surprisingly high levels of nucleotide polymorphism at the two β-globin paralogs were attributable to the segregation of two highly divergent haplotypes, Hbb s (which carries two identical β-globin paralogs) and Hbb d (which carries two functionally divergent β-globin paralogs). (genetics.org)
  • Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent. (medlineplus.gov)
  • Thalassemias are classified according to the globin that is affected, hence the names alpha and beta thalassemia. (encyclopedia.com)
  • Thalassemias are a group of disorders characterized by a decrease in either the alpha or beta globin chain production in red blood cells (RBCs). (cdc.gov)
  • Alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. (cdc.gov)
  • Using the dominant control region (DCR) sequences that flank the beta-globin gene locus, we have been able to achieve high-level expression of the human alpha-globin gene in transgenic mice. (ox.ac.uk)
  • We used Affymetrix chip technology and RT QPCR to compare expression patterns of FL5.12 cells growing with or without IL-3 to search for transcription factors which were concomitantly upregulated with alpha globin. (novartis.com)
  • To evaluate the influence of GATA-2 on alpha globin expression and cell viability we overexpressed GATA-2 in FL5.12 cells. (novartis.com)
  • Interestingly, high expression of GATA-2 resulted in cell death and elevated alpha globin levels in FL5.12 cells. (novartis.com)
  • One obstacle for expression profiling RNA from whole blood is the relatively high content of globin messenger RNA (mRNA) from immature red blood cells. (bio-medicine.org)
  • With the removal of globin transcripts, the enriched RNA samples become superior templates for RNA expression profiling because the presence of globin mRNA is no longer a factor in decreasing the sensitivity of gene detection on microarrays (Figure 2). (bio-medicine.org)
  • This kit was developed to reduce or eliminate the negative effects of globin mRNA on high density oligonucleotide expression profiling, and the resulting enriched RNA is compatible with the RiboPure-Blood Kit and the MessageAmp II aRNA Amplification System . (bio-medicine.org)