Globins: A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.alpha-Globins: 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.Thalassemia: 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.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.alpha-Thalassemia: 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.Hylobates: 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).beta-Thalassemia: 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.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.Hemoglobins, Abnormal: 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.Reticulocytes: 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.Genes: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.DNA Restriction Enzymes: 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.Nucleic Acid Hybridization: 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)Molecular Sequence Data: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.DNA, Recombinant: 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, Messenger: 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.DNA: 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).Multigene Family: 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)alpha 1-Antitrypsin: Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Amino Acid Sequence: 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.Chromosome Deletion: Actual loss of portion of a chromosome.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Terminator Regions, Genetic: DNA sequences recognized as signals to end GENETIC TRANSCRIPTION.Promoter Regions, Genetic: 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.Receptors, Adrenergic, alpha: 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.Leukemia, Erythroblastic, Acute: A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.Mutation: 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: 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.Cloning, Molecular: 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.Hemoglobins: 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.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.alpha7 Nicotinic Acetylcholine Receptor: 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.Locus Control Region: 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.Gene Expression Regulation: 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.Hemin: 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.Integrin alpha3beta1: 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.Integrin alpha4: 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.Integrin alpha6: 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, Switch: 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.Integrin alpha5beta1: 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.Erythropoiesis: 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.Hemoglobinopathies: A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.Integrin alpha4beta1: 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.Interleukin-1alpha: 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.Protein Biosynthesis: The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.Erythroid Cells: The series of cells in the red blood cell lineage at various stages of differentiation.Integrin alpha2beta1: 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.Receptors, Adrenergic, alpha-1: 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.Integrin alpha5: 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: 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.Erythroblasts: 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.Protein Binding: 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.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Receptors, Adrenergic, alpha-2: 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.Kinetics: The rate dynamics in chemical or physical systems.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Integrin alpha6beta1: 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.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Hemoglobin A: Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.Erythroid Precursor Cells: 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.gamma-Globins: 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.Integrin alpha6beta4: 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.Rabbits: 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.Integrin alpha Chains: 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.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Transfection: 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.Integrins: 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.Integrin alpha1: An integrin alpha subunit that binds COLLAGEN and LAMININ though its I domain. It combines with INTEGRIN BETA1 to form the heterodimer INTEGRIN ALPHA1BETA1.Alpha Rhythm: 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.Macromolecular Substances: 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.Integrin alpha3: 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.alpha 1-Antitrypsin Deficiency: Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.Heme: The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.Truncated Hemoglobins: 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.Receptors, Nicotinic: 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.Adrenergic alpha-Agonists: Drugs that selectively bind to and activate alpha adrenergic receptors.NF-E2 Transcription Factor, p45 Subunit: 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.PPAR alpha: 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.Dinoprost: 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.Adrenergic alpha-Antagonists: 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.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.DNA-Binding Proteins: 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.Erythroid-Specific DNA-Binding Factors: A group of transcription factors that were originally described as being specific to ERYTHROID CELLS.Signal Transduction: 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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.NF-E2 Transcription Factor: 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.Dimethyl Sulfoxide: 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.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Electrophoresis, Polyacrylamide Gel: Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.Hepatocyte Nuclear Factor 1-alpha: 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)

*HBE1

... an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166. "Entrez Gene ... The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains ... Tuan D, Solomon W, Li Q, London IM (1985). "The "beta-like-globin" gene domain in human erythroid cells". Proc. Natl. Acad. Sci ...

*Hemoglobin Constant Spring

... is a variant of Hemoglobin in which a mutation in the alpha globin gene produces an alpha globin ... Another reason is that the Constant Spring alpha chain protein is itself unstable. The result is a thalassemic phenotype. ... It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease. The quantity of hemoglobin ...

*Beta thalassemia

This test is used to investigate deletions and mutations in the alpha- and beta-globin-producing genes. Family studies can be ... The technology is based on delivery of a lentiviral vector carrying both the human β-globin gene and an ankyrin insulator to ... Most often, mutations occur in the promoter regions preceding the beta-globin genes. Less often, abnormal splice variants are ... Deletion forms: Deletions of different sizes involving the β globin gene produce different syndromes such as (βo) or hereditary ...

*Globin

Since the globin fold contains only helices, it is classified as an all-alpha protein fold. The globin fold is found in its ... Eight globins are known to occur in vertebrates: androglobin, cytoglobin, globin E, globin X, globin Y, hemoglobin, myoglobin ... Globin superfamily members share a common three-dimensional fold. This 'globin fold' typically consists of eight alpha helices ... Globin E: a globin responsible for storing and delivering oxygen to the retina in birds Globin-coupled sensors: chimeric, with ...

*Mu hemoglobin

... is a human alpha-like globin gene named HBM gene. The mRNA is expressed at moderate levels, but the protein is ... August 2005). "A newly discovered human alpha-globin gene". Blood. 106 (4): 1466-72. doi:10.1182/blood-2005-03-0948. PMC ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166. Fischel- ... Ghodsian N, Nicholls RD, Higgs DR (November 1987). "Unusual features of CpG-rich (HTF) islands in the human alpha globin ...

*HBAP1

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:". "Entrez Gene: HBAP1 hemoglobin ...

*Alpha thalassemia abnormal morphogenesis

It's made up of alpha globin and beta globin. Normally each person has four genes for alpha globin, Alpha thalassemia happens ... Alpha globin is made on chromosome 16, so if any gene that tells chromosome 16 to produce alpha globin is missing or mutated, ... HbH disease is caused by loss of three of the four alpha globin alleles. In these two conditions, a shortage of alpha globin ... A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. People with alpha thalassemia trait may have ...

*TFCP2

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 ...

*Hemoglobin subunit zeta

... 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 (1980). "Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia". Nature. 286 ( ... The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta1 - 3'. GRCh38: Ensembl release ...

*Untranslated region

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 ...

*LUC7L

... defining the centromeric boundary of the human alpha-globin domain". Genomics. 71 (3): 307-14. doi:10.1006/geno.2000.6394. PMID ...

*HBD

"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166. "Entrez Gene ... 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. ...

*HBB

... is a globin protein, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, the HbA ... Expression of beta globin and the neighbouring globins in the β-globin locus is controlled by single locus control region (LCR ... Beta globin (also referred to as HBB, β-globin, haemoglobin beta, hemoglobin beta, or preferably haemoglobin subunit beta) ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166. Giardina B, ...

*HBQ1

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. PMID 2649166. "Entrez Gene ... 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. ...

*Human β-globin locus

"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166. Salzano AM, ... This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. Expression of all of ... The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. The arrangement of ...

*Point mutation

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 ...

*White Amazonian Indians

Ribeiro, Daniela M.; Maria S. Figueiredo; Fernando F. Costa; Maria F. Sonati (2003). "Haplotypes of alpha-globin gene ...

*Hemoglobin Barts

... two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin gene deletions). Deletion of ... the two genes that code for alpha globins, are non-functional, only gamma globins are produced. These gamma globins bind to ... As an embryo develops, it begins to produce alpha-globins at weeks 5-6 of development. When both HBA1 and HBA2, ... the patient is usually referred for further evaluation since detection of hemoglobin Barts can indicate either one alpha globin ...

*John Barnabas

... ; Morris Goodman; G. William Moore (1972). "Descent of Mammalian Alpha Globin Chain Sequences Investigated by the ...

*HBG2

"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166. "Entrez Gene ... 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 ...

*ERAF

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 ...

*PCBP4

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- ...

*PCBP1

... 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. PMC 232339 . PMID 9234743. Wang Z ... "Identification of two KH domain proteins in the alpha-globin mRNP stability complex". EMBO J. 14 (17): 4357-64. PMC 394520 . ...

*PCBP2

... suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin ... Kiledjian M, Wang X, Liebhaber SA (1995). "Identification of two KH domain proteins in the alpha-globin mRNP stability complex ... as a component of the alpha-globin mRNA stability complex". Mol. Cell. Biol. 17 (8): 4870-6. PMC 232339 . PMID 9234743. Suzuki ...

*Hemoglobin, alpha 2

... alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin. The human alpha globin gene ... Voon HP, Vadolas J (Dec 2008). "Controlling alpha-globin: a review of alpha-globin expression and its impact on beta- ... Ribeiro DM, Sonati MF (2008). "Regulation of human alpha-globin gene expression and alpha-thalassemia". Genetics and Molecular ... Alpha-thalassemias most commonly result from deletions of any of the four alpha alleles, although some alpha thalassemias have ...

*Promoter (genetics)

Subsite structure of UP elements and interactions with the carboxy-terminal domain of the RNA polymerase alpha subunit". Genes ... moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element". ... "Nuclear factor-kappaB-dependent induction of interleukin-8 gene expression by tumor necrosis factor alpha: evidence for an ... DNA binding by the alpha subunit of RNA polymerase". Science. 262 (5138): 1407-1413. doi:10.1126/science.8248780. PMID 8248780 ...

*HBG1

"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166. "Entrez Gene ... The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains ... 1979). "Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia)". Proc. Natl. Acad. Sci. U.S.A. 76 (7): ... Fucharoen S, Shimizu K, Fukumaki Y (1990). "A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in ...
The eukaryotic genome is partitioned into chromatin domains containing coding and intergenic regions. Insulators have been suggested to play a role in establishing and maintaining chromatin domains. Here we describe the identification and characterization of two separable enhancer blocking elements located in the 5 flanking region of the chicken alpha-globin domain, 11-16 kb upstream of the embryonic alpha-type pi gene in a DNA fragment harboring a MAR (matrix attachment region) element and three DNase I hypersensitive sites (HSs). The most upstream enhancer blocking element co-localizes with the MAR element and an erythroid-specific HS. The second enhancer blocking element roughly co-localizes with a constitutive HS. The third erythroid-specific HS present within the DNA fragment studied harbors a silencing, but not an enhancer blocking, activity. The 11 zinc-finger CCCTC-binding factor (CTCF), which plays an essential role in enhancer blocking activity in many previously characterized ...
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 ...
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
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This thesis aimed to investigate the features and properties of the ground states, transient species and photoproducts involved in the photophysical and photochemical processes for four kinds of drug compounds: lomefloxacin (LF), norfloxacin (NF), tiaprofenic acid (TPA), and flurbiprofen (Fp). The investigation used femtosecond transient absorption (fs-TA), nanosecond transient absorption (ns-TA), UV/Vis absorption spectra (UV/Vis), nanosecond transient resonance Raman (ns-TR2) and nanosecond time-resolved resonance Raman spectroscopy (ns-TR3), as well as density functional theory (DFT) calculations. Although many previous investigations have indicated that photo-defluorination or photo-decarboxylation reactions may account for the phototoxicity for these compounds, detailed information on the mechanisms remains unclear. In this thesis, the photo-defluorination reaction of LF was explored in neutral water at pH 7.2. The fs-TA results revealed that the lowest lying excited singlet state species ...
Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5 - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3. [provided by RefSeq, Nov 2009 ...
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. ...
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. ...
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. ...
What is alpha thalassemia? Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that
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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.
... 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.
... 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.
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, containing the α-globin locus, which is expressed in K562 cells and silenced in lymphoblastoid cells (GM12878). The models accurately reproduce the known looping interactions between the α-globin genes and their distal regulatory elements. Further, we find using our approach that the domain folds into a single globular conformation in GM12878 cells, whereas two globules are formed in K562 cells. The central cores of these globules are enriched for transcribed genes, whereas nontranscribed chromatin is more peripheral. We propose that globule formation represents a higher-order folding state related to clustering of transcribed genes around shared transcription machineries, as previously observed by microscopy
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Looking for online definition of alpha thalassemia in the Medical Dictionary? alpha thalassemia explanation free. What is alpha thalassemia? Meaning of alpha thalassemia medical term. What does alpha thalassemia mean?
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
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
Hemoglobin A2 Lysate, 0.1 mg. The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3.
For a discussion of alpha-thalassemia, see Alpha Thalassemia. A list of HBA1 and HBA2 alpha-thalassemia mutations is on the HBA2 page. ...
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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. ...
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.
We have studied the interaction of the alpha alpha alpha/alpha alpha gene arrangement with various beta globin genotypes (AA, AS, AC, SS and SC). Whereas this interaction has no detectable clinical or haematological effects in subjects with AA, SS or SC genotypes it is associated with a significantly increased level of Hb S or Hb C in heterozygotes for these variants. These findings indicate that the additional alpha globin gene in the alpha alpha alpha gene arrangement is functional.
β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis. Five TaqMan genotyping assays were designed and developed to detect the common β-thalassemia mutations in Malaysian Malays. The assays were evaluated with 219 blinded DNA samples and the results showed 100% sensitivity and specificity. The in-house designed TaqMan genotyping assays were found to be cost- and time-effective for characterization of β-thalassemia mutations in the Malaysian population.
β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis. Five TaqMan genotyping assays were designed and developed to detect the common β-thalassemia mutations in Malaysian Malays. The assays were evaluated with 219 blinded DNA samples and the results showed 100% sensitivity and specificity. The in-house designed TaqMan genotyping assays were found to be cost- and time-effective for characterization of β-thalassemia mutations in the Malaysian population.
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 ...
Tajuddin, S. M., Schick, U. M., Eicher, J. D., Chami, N., Giri, A., Brody, J. A., et al.. (2016). Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. Am J Hum Genet, 99(1), 22-39. presented at the 2016 Jul 07. doi:10.1016/j.ajhg.2016.05. ...
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008 ...
Title: Sickle Cell Disease (Sickle Cell Anemia),br /,Category: Diseases and Conditions,br /,Created: 12/31/1997 12:00:00 AM,br /,Last Editorial Review: 9/7/2016 12:00:00 ...
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 ...
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...
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, ...
Chromosome conformation capture (3C) is a powerful technique that allows for the generation of 3‐dimensional transcriptome organisational maps
Lodish, H.F.; Nathan, D.G., 1972: Regulation of hemo globin synthesis preferential inhibition of alpha globin and beta globin synthesis
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
Hemoglobin subunit epsilon is a protein that in humans is encoded by the HBE1 gene. The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5 - epsilon - gamma-G - gamma-A - delta - beta - 3. Hemoglobin Human β-globin locus GRCh38: Ensembl release 89: ENSG00000213931 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000052217 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. ...
The photophysics and photochemical reactions of 2-(1-hydroxyethyl) 9,10-anthroquinone (2-HEAQ) were studied using femtosecond transient absorption (fs-TA), nanosecond transient absorption (ns-TA), and nanosecond time-resolved resonance Raman (ns-TR(3)) spectroscopy techniques and density functional theory (DFT) calculations. In acetonitrile, 2-HEAQ underwent efficient intersystem crossing to the triplet excited state ((2-HEAQ)(3)). A typical photoreduction reaction for aromatic ketones took place via production of a ketyl radical intermediate for 2-HEAQ in isopropanol. In water-containing solutions with pH values between 2 and 10, an unusual photoredox reaction reported by Wan and co-workers was detected and characterized. Observation of the protonated species in neutral and acidic aqueous solutions by fs-TA spectra indicated the carbonyl oxygen of (2-HEAQ)(3) was protonated initially and acted as a precursor of the photoredox reaction. The preference of the photoredox reaction to occur under ...
The KLF1 gene encodes a key transcription factor regulating the developmental switch from fetal to adult globin. Based on previous and recent experimental data it has been hypothesized that after birth high levels of KLF1 activate the HBB gene and BCL11A expression, which in turn suppresses HBG1/HBG2 expression, while in the fetus reduced KLF1 levels result in very low HBB and BCL11A gene expression and therefore in low beta and high gamma globin levels.6 It is interesting to note that subjects II-1 and II-2, with genetic compound for the two KLF1 mutations, have unbalanced alpha/beta globin chain synthesis ratio (i.e. in the beta-thalassemia carrier range), despite having normal beta globin gene sequence and not increased HbA2 levels. The reduced beta globin production and the excess of G-gamma chains partly resembles a late fetal or newborn condition, consistent with the key role of KLF1 in the globin switching. The milder imbalance in II-2 as compared to II-1 is due to the coinheritance of ...
Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, ODonnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 08 04; 99(2):481-8. PMID: 27486782; PMCID: PMC4974169 [Available on 02/04/17]. ...
The page below is a sample from the LabCE course Beta Thalassemia. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
Hemoglobin Constant Spring is a variant of Hemoglobin in which a mutation in the alpha globin gene produces an alpha globin chain that is abnormally long. It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease. The quantity of hemoglobin in the cells is low because the messenger RNA is unstable and some is degraded prior to protein synthesis. Another reason is that the Constant Spring alpha chain protein is itself unstable. The result is a thalassemic phenotype. Hemoglobin Constant Spring is renamed after Constant Spring district in Jamaica. Hemoglobin variants Hemoglobinopathy Thalassemia What is Thalassemia? Hemoglobin H Disease and its Variants Hemoglobinopathiesm(Hemoglobin Disorders) Schrier, SL; Bunyaratvej, A; Khuhapinant, A; Fucharoen, S; Aljurf, M; Snyder, LM; Keifer, CR; Ma, L; Mohandas, N (1997). "The unusual pathobiology of hemoglobin constant spring red blood cells". Blood. 89: 1762-9. PMID 9057661. About ...
Beta-thalassemia (β-thalassemia) is characterized by reduced synthesis of the haemoglobin subunit beta (haemoglobin beta chain) that results in microcytic hypochromic anaemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of haemoglobin A (HbA) on haemoglobin analysis. Individuals with thalassemia major have severe anaemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anaemia that only rarely requires transfusion. [1] These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective ...
Reactivation of fetal hemoglobin (HbF) in adults ameliorates the severity of the common β-globin disorders. The transcription factor BCL11A is a critical modulator of hemoglobin switching and HbF silencing, yet the molecular mechanism through which BCL11A coordinates the developmental switch is incompletely understood. Particularly, the identities of BCL11A cooperating protein complexes and their roles in HbF expression and erythroid development remain largely unknown. Here we determine the interacting partner proteins of BCL11A in erythroid cells by a proteomic screen. BCL11A is found within multiprotein complexes consisting of erythroid transcription factors, transcriptional corepressors, and chromatin-modifying enzymes. We show that the lysine-specific demethylase 1 and repressor element-1 silencing transcription factor corepressor 1 (LSD1/CoREST) histone demethylase complex interacts with BCL11A and is required for full developmental silencing of mouse embryonic β-like globin genes and human γ
Alpha-thalassemia is a fairly common blood disorder that results in reduced amounts of hemoglobin, the protein in red blood cells that carries oxygen to cell in the body. This lowers the amount of oxygen that cells receive, causing various health problems, including anemia. There are two types of alpha-thalassemia that can cause serious health problems and two types that can cause mild symptoms. The most serious is called hemoglobin Bart. Fetuses affected with hemoglobin Bart usually do not survive beyond the newborn period. While still in the uterus, they experience health complications, including swelling, fluid buildup around the organs, heart defects and genital abnormalities. The mothers of these fetuses experience health complications including preeclampsia, (extreme hypertension), excessive amniotic fluid or reduced amniotic fluid, bleeding in the genital tract, and premature delivery. Due to the lack of very effective treatment and severe complications, termination of these pregnancies ...
This is a genetic disease. It is linked to a decreased expression of three of the four α-globin genes, encoding the α-globin chains, one of the components of haemoglobin (Hb). It is a frequent disorder in people originating from Asia. ...
hemoglobin J Tongariki: alpha chain variant; affected chromosome carries only a single active alpha globin gene; this condition is present in alpha thalassaemia
Beta thalassaemia intermedia due to silent alpha globin gene quadruplication in an infant Pathology. 2014 Oct; 46(6):570-2. . View in PubMed. Blood culture time to positivity in febrile infants with bacteremia JAMA Pediatr. 2014 Sep; 168(9):844-9. . View in PubMed. In vitro approaches to assessing the toxicity of quantum dots Methods Mol Biol. 2014; 1199:155-63. . View in PubMed. ...
Health,... CHICAGO Jan. 29 /- Medifacts Systems Inc. announces...Thalassemia is an inherited blood disease particularly prevalent among...The severity of alpha thalassemia is correlated with the number ofaff...-- If one of the four loci is affected there is minimal effect. ...,Medifacts,Systems,,Inc.,Grants,Exclusive,License,for,Genetic,Test,Patent,to,Mayo,Clinic,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
To explore the clinical significance of genetic detection and changes of red cell enzyme activities of pyrimidine 5 nucleotidase (P5N), pyruvate kinase (PK) and glucose-6-phosphate dehydrogenase (G-6-PD) in patients with α-thalassaemia (α-thal). Three α-thal patients were further processed to gene detection by PCR-trans-dot blot and gap-PCR, and red cell enzymes ...
Medifacts Systems, Inc. announces that it has granted an exclusive license for a genetic test patent to Mayo Clinic. The patented test detects Alpha Thalassemia mutations and their
The prevalence of alpha-thalassaemia and various globin gene rearrangements was determined in 1992 individuals living on 11 islands in French Polynesia. The gene frequencies for alpha+-thalassaemia almost exclusively the - alpha3.7III deletion form range from 5.3% to 19.2%. Haematological indices on 177 heterozygotes and 27 homozygotes for the -...
PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of Health (NIH) free digital archive of biomedical and life sciences journal literature and is a member of the broader PMC International (PMCI) network of e-repositories.
In Beta thalassemia there is an abnormality in the production of beta chains which causes the red cells to more easily breakdown resulting in mild to severe anemia depending on the type that is present.
Hi All: as we know every gene has an allele on each chromosome. My question is that if we have a protein that is produced by more than one gene e.g. alpha globin wich is produced by alpha 1 and alpha 2 genes on each chromosome . In this case we will ..
Use Bio-Rads PrimePCR assays, controls, templates for your target gene. Every primer pair is optimized, experimentally validated, and performance guaranteed.
alpha thalassemias result in excess beta chain production in adults and excess gamma chains in newborns. The excess beta chains form unstable tetramers that have abnormal oxygen dissociation curves.. There are four genetic loci for alpha globin. The more of these loci that are deleted or affected by mutation, the more severe will be the manifestations of the disease. If all four loci are affected, the fetus cannot live once outside the uterus: most such infants are dead at birth with hydrops fetalis, and those who are born alive die shortly after birth. They are edematous and have little circulating hemoglobin, and the hemoglobin that is present is all tetrameric gamma chains (hemoglobin Barts).. If three loci are affected, Hemoglobin H disease results. Two unstable hemoglobins are present in the blood, both hemoglobin Barts and hemoglobin H (tetrameric beta chains). There is a microcytic hypochromic anemia with target cells and Heinz bodies on the peripheral blood smear. The disease may first ...
Pharmacologic reactivation of fetal hemoglobin expression is a promising strategy for treatment of sickle cell disease and β-thalassemia. The objective of this study was to investigate the effect of the methyl transferase inhibitor adenosine-2,3-dialdehyde (Adox) on induction of human fetal hemoglobin (HbF) in K562 cells and human hematopoietic progenitor cells. Expression levels of human fetal hemoglobin were assessed by northern blot analysis and Real-time PCR. HbF and adult hemoglobin (HbA) content were analyzed using high-performance liquid chromatography (HPLC). DNA methylation levels on human gamma-globin gene promoters were determined using Bisulfite sequence analysis. Enrichment of histone marks on genes was assessed by chromosome immunoprecipitation (ChIP). Adox induced γ-globin gene expression in both K562 cells and in human bone marrow erythroid progenitor cells through a mechanism potentially involving inhibition of protein arginine methyltransferase 5 (PRMT5). The ability of methyl
Analysis of DNA from members of a Melanesian family from Papua New Guinea with haemoglobin (Hb) H disease revealed that all four alpha globin genes are intact in affected subjects. Study of restriction enzyme site and length polymorphisms and the use of oligonucleotide probes indicated that the molecular basis of this Papuan form of non-deletion Hb H disease differs from the previously described Middle Eastern and Mediterranean types.. ...
A 77 year old man was admitted to our department because of enterorrhagia and progressive anaemia. On physical examination he was pale, dyspnoeic, and an aortic systodiastolic murmur (Levine grade 3) was heard. Laboratory examination showed microcytic hypochromic anaemia (haemoglobin 62 g/l). An echocardiogram showed severe left ventricular hypertrophy and a calcific aortic valve with moderate-severe stenoinsufficiency. Upper gastrointestinal endoscopy, colonoscopy, computed tomography of the abdomen and pelvis, and arteriography of gastrointestinal vessels did not disclose the origin of the bleeding. No antibiotic prophylaxis was performed before procedures. Fifteen days after colonoscopy, the patient became febrile (body temperature up to 40.1°C). A repeat echocardiogram showed two small and mobile vegetations on the right and non-coronary aortic cusps, and transoesophageal echocardiogram confirmed this finding. Three blood specimens for culture were drawn and within seven days all cultures ...
Vulpe C.D., Kuo Y.M., Murphy T.L., Cowley L., Askwith C., Libina N., Gitschier J., Anderson G.J.. Iron is essential for many cellular functions; consequently, disturbances of iron homeostasis, leading to either iron deficiency or iron overload, can have significant clinical consequences. Despite the clinical prevalence of these disorders, the mechanism by which dietary iron is absorbed into the body is poorly understood. We have identified a key component in intestinal iron transport by study of the sex-linked anaemia (sla) mouse, which has a block in intestinal iron transport. Mice carrying the sla mutation develop moderate to severe microcytic hypochromic anaemia. Although these mice take up iron from the intestinal lumen into mature epithelial cells normally, the subsequent exit of iron into the circulation is diminished. As a result, iron accumulates in enterocytes and is lost during turnover of the intestinal epithelium. Biochemical studies have failed to identify the underlying difference ...
Synonyms for Beta thalassemia in Free Thesaurus. Antonyms for Beta thalassemia. 3 synonyms for thalassemia: Mediterranean anaemia, Mediterranean anemia, thalassaemia. What are synonyms for Beta thalassemia?
Sinasi Nasih Ozsoylu. Did the proband have thalassemia intermedia or severe thalassemia trait?. Turk J Hematol. 2012; 29(1): 99- ...
n normal individual, hemoglobin consists of two alpha chains and two beta chains. Beta thalassemia is associated with point mutation of the beta globin chain of the hemoglobin of the chromosome 11. Beta thalassemia may present with reduced production o
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View Hbb/Hbb<+> Tg(HBB-AR-HBA2,-HBB*)58Rub/0 Tg(LCR-HBA2,LCR-HBB)11Cos/0 involves: FVB/N * Swiss Webster: phenotypes, images, diseases, and references.
View Hbb/Hbb Tg(HBB-AR-HBA2,-HBB*)58Rub/0 Tg(LCR-HBA2,LCR-HBB)11Cos/0 involves: FVB/N * Swiss Webster: phenotypes, images, diseases, and references.

High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human...High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human...

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 ...
more infohttps://www.neuroscience.ox.ac.uk/publications/13535

Hemoglobinopathies facts, information, pictures | Encyclopedia.com articles about HemoglobinopathiesHemoglobinopathies facts, information, pictures | Encyclopedia.com articles about Hemoglobinopathies

If an individual does not have any functional alpha genes, the body cannot produce any alpha globin. Since HbF requires alpha ... alpha]- or the ß-globin (alpha- and beta-globin) chains. Some of these genetic changes, such as the substitution of valine for ... because an individual inherits two alpha globin genes from each parent for a total of four alpha globin genes. Thus a person ... Globin can contain several different types of polypeptide chains, termed alpha, beta, and gamma. Each is coded for by a ...
more infohttps://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/hemoglobinopathies

Beta-thalassemia: NewbornBeta-thalassemia: Newborn

... alpha globin and beta globin.. Normal hemoglobin has two alpha and two beta globin protein chains. A deficiency or absence of ... The beta chain requires a gene from each parent to produce the correct quality and quantity of beta globin. If the gene from ... the alpha chain results in Alpha-thalassemia and a deficiency or absence of one or more of the beta chains results in Beta- ...
more infohttp://www.openanesthesia.org/beta-thalassemia_newborn/

Alpha-globin Common Mutation Analysis - Quest Diagnostics Nichols Institute of ValenciaAlpha-globin Common Mutation Analysis - Quest Diagnostics Nichols Institute of Valencia

Alpha Thalassemia is a common hereditary trait and disease among individuals of Asian heritage. Disease ranges in severity from ...
more infohttp://www.specialtylabs.com/tests/details.asp?id=11175

Alpha-globin Gene Del/dup [16124x] - Quest Diagnostics Nichols Institute of ValenciaAlpha-globin Gene Del/dup [16124x] - Quest Diagnostics Nichols Institute of Valencia

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 ...
more infohttp://specialtylabs.com/tests/details.asp?id=S52525

Detection of alpha-globin gene disorders by a simple PCR methodology. - Semantic ScholarDetection of alpha-globin gene disorders by a simple PCR methodology. - Semantic Scholar

... 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 ...
more infohttps://www.semanticscholar.org/paper/Detection-of-alpha-globin-gene-disorders-by-a-PCR-Foglietta-Deidda/a38dd1d7436fb52704dedfe1b32082169228f599

Chromatin organisation at the alpha globin locus - Radcliffe Department of MedicineChromatin organisation at the alpha globin locus - Radcliffe Department of Medicine

Chromatin organisation at the alpha globin locus Brown JM., Babbs C., Roberts N., Jeziorska D., Graham B., Szczerbal I., Hughes ...
more infohttps://www.rdm.ox.ac.uk/publications/526120

Alpha thalassaemia and extended alpha globin genes in Sri Lanka. - Radcliffe Department of MedicineAlpha thalassaemia and extended alpha globin genes in Sri Lanka. - Radcliffe Department of Medicine

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 ...
more infohttps://www.rdm.ox.ac.uk/publications/358513

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. - MRC Weatherall...Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. - MRC Weatherall...

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 ...
more infohttps://www.imm.ox.ac.uk/publications/252546

Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/DuplicationAlpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication

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 ...
more infohttp://ltd.aruplab.com/tests/pub/2011708

Diagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential...Diagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential...

Hemoglobin (Hb) Fontainebleau is a rare alpha globin chain variant [alpha 21(B2) Ala→Pro], of which only three families have ... Alpha globin chain variants per se do not cause severe morbidity and mortality but can modify - usually ameliorate - the ... Nair S, Nadkarni A, Warang P, Bhave A, Ghosh K, Colah R. Five alpha globin chain variants identified during screening for ... Studies involving the spectrum and frequency of alpha globin chain variants in India are very few.[2] The clinical importance ...
more infohttp://www.ijpmonline.org/printarticle.asp?issn=0377-4929

Leicester Research Archive: Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion.Leicester Research Archive: Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion.

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. ...
more infohttps://lra.le.ac.uk/handle/2381/15541

Mild sickle cell anemia associated with alpha globin mutant alpha montgomery<...Mild sickle cell anemia associated with alpha globin mutant alpha montgomery<...

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, ...
more infohttps://augusta.pure.elsevier.com/en/publications/mild-sickle-cell-anemia-associated-with-alpha-globin-mutant-alpha

Activation of the alpha-globin gene expression correlates with dramatic upregulation of nearby non-globin genes and changes in...Activation of the alpha-globin gene expression correlates with dramatic upregulation of nearby non-globin genes and changes in...

Activation of the alpha-globin gene expression correlates with dramatic upregulation of nearby non-globin genes and changes in ... Activation of the alpha-globin gene expression correlates with dramatic upregulation of nearby non-globin genes and changes in ... Activation of the alpha-globin gene expression correlates with dramatic upregulation of nearby non-globin genes and changes in ... The alpha-globin gene domain and the neighboring loci reside within the A-like chromatin compartment in both lymphoid and ...
more infohttp://libros.duhnnae.com/2017/aug3/150192565121-Activation-of-the-alpha-globin-gene-expression-correlates-with-dramatic-upregulation-of-nearby-non-globin-genes-and-changes-in-local-and-large-scale-c.php

Comment on Influence of βS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemiaComment on "Influence of βS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia"

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 ...
more infohttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842014000200102&lng=en&nrm=iso&tlng=en

hemolytic anemia wk7 mon9am Flashcards by Danielle Laufer | Brainscapehemolytic anemia wk7 mon9am Flashcards by Danielle Laufer | Brainscape

decreased alpha globin synthesis. - usually oriental or asian. - 2 alleles for alpha chain synthesis (4 gene) ... due to a quantitative decrease in the synthesis of one or more globin chains resulting in an unbalanced synthesis of globin ...
more infohttps://www.brainscape.com/flashcards/hemolytic-anemia-wk7-mon9am-79888/packs/261945

Exam #2: Physiology of Blood  Flashcards by Jonathan  Kallevang | BrainscapeExam #2: Physiology of Blood Flashcards by Jonathan Kallevang | Brainscape

Hemoglobin contains 4 globin chains: - 2x alpha globin chains - 2x beta globin chains. Each is bound to a heme moiety ...
more infohttps://www.brainscape.com/flashcards/exam-2-physiology-of-blood-3334269/packs/5105548

One-year clinical outcomes following theta burst stimulation for post-traumatic stress disorder.One-year clinical outcomes following theta burst stimulation for post-traumatic stress disorder.

They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the ... Alpha-globins. Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. ... Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains. ...
more infohttps://www.bioportfolio.com/resources/pmarticle/2550629/One-year-clinical-outcomes-following-theta-burst-stimulation-for-post-traumatic-stress.html

Table of Contents - April 08, 1977, 196 (4286) | ScienceTable of Contents - April 08, 1977, 196 (4286) | Science

Nucleotide sequences from a rabbit alpha globin gene inserted in a chimeric plasmid ...
more infohttps://science.sciencemag.org/content/196/4286

Diversity | Free Full-Text | Insights into Hemoglobin Polymorphism and Related Functional Effects on Hematological Pattern in...Diversity | Free Full-Text | Insights into Hemoglobin Polymorphism and Related Functional Effects on Hematological Pattern in...

... included qualitative and quantitative analyses of hemoglobins and qualitative and quantitative analyses of α and β globins, as ... alpha globin genes; beta globin genes; positively charged variants hematocrit value cattle; goat; sheep; alpha globin genes; ... included qualitative and quantitative analyses of hemoglobins and qualitative and quantitative analyses of α and β globins, as ...
more infohttp://www.mdpi.com/1424-2818/2/4/679

Articles by Pakaphan Kiatchoosakun, MD : Journal of Pediatric Hematology/OncologyArticles by Pakaphan Kiatchoosakun, MD : Journal of Pediatric Hematology/Oncology

Fetal Anemia Causing Hydrops Fetalis From an Alpha-Globin Variant: Homozygous Hemoglobin Constant Spring. Komvilaisak, ...
more infohttps://journals.lww.com/jpho-online/pages/author.aspx?firstName=Pakaphan&lastName=Kiatchoosakun

FeatureExtract Usage instructionsFeatureExtract Usage instructions

The following list of GenBank entries contains alpha globins from a wide range of organisms. This example illustrates the ... Example 1: Alphaglobins using GenBank accession IDs (NOT AVAILABLE IN 1.2L (light)). ...
more infohttp://www.cbs.dtu.dk/services/FeatureExtract/instructions.php

KAKEN - Research Projects | BASIC STUDIES FOR TECHNICAL DEVELOPMENTS ON SEED PRODUCTION IN AQUACULTURE (KAKENHI-PROJECT...KAKEN - Research Projects | BASIC STUDIES FOR TECHNICAL DEVELOPMENTS ON SEED PRODUCTION IN AQUACULTURE (KAKENHI-PROJECT...

Publications] G. Yoshizaki: Induction of carp alpha-globin gene into rainbow trout. Nippon Suisan Gakkaishi. 57. 819-824 ( ... Publications] G.Yoshizaki: Induction of carp α-globin gene into rainbow trout. Nippon Suisan Gakkaishi. 57. 819-824 (1991). * ... Publications] G.Yoshizaki: Induction of carp a-globin gene into rainbow trout. Nippon suisan Gakkaishi. 57. 819-824 (1991). * ...
more infohttps://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-03304020/

PPT - Molecules of Life PowerPoint Presentation - ID:799875PPT - Molecules of Life PowerPoint Presentation - ID:799875

To help you distinguish among them, the two alpha globin chains are shown here in green, and the two beta globin chains are in ... beta globin. B Hemoglobin is one of the proteins with quaternary structure. It consists of four globin molecules held together ... A Globin. The secondary structure of this protein includes several helices. The coils fold up to form a pocket that cradles ... Hemoglobin contains four globin chains, each with an iron-containing heme group that binds oxygen and carries it to body cells ...
more infohttps://www.slideserve.com/terris/molecules-of-life

University of Hildesheim | Mathematik, Naturwissenschaften, Wirtschaft & Informatik | Institut für Mathematik & Angewandte...University of Hildesheim | Mathematik, Naturwissenschaften, Wirtschaft & Informatik | Institut für Mathematik & Angewandte...

Alpha globin gene seq ID 1- 88 4- 91 426 PPHBA02 ,Orangutan alpha-1-globin 109- 199 1- 91 420 PPHBA01 ,Orangutan alpha-2-globin ... HSAGL4 ,Human gene for alpha 1 g 84- 174 1- 91 441 HSAGL2 ,Human alpha-globin gene 38- 128 1- 91 441 HSAGL1 ,Human alpha-globin ... PTGL02 ,Pan troglodytes alpha-gl 38- 128 1- 91 441 HSHBA4 ,Human alpha globin psi-a 10514- 10604 1- 91 441 HSHBA4 ,Human alpha ... ECHBA2A2 ,Horse BII alpha-1 globin 210- 300 1- 91 385 ECHBA2A1 ,Horse BII alpha-2 globin 190- 280 1- 91 385 GCHBBA6 ,G. ...
more infohttps://www.uni-hildesheim.de/en/fb4/institutes/imai/groups/diskrete-mathematik-und-stochastik/arbeitsgruppe-professor-dr-bentz/projektgruppe-neuronale-netze/forschungsthemen/fehlertolerantes-dna-und-proteinretrieval/beispiele/
  • 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)
  • Alpha globin chain variants per se do not cause severe morbidity and mortality but can modify - usually ameliorate - the clinical manifestations of beta globin chain variants when co-inherited with the latter. (ijpmonline.org)
  • Those stem cells are then exposed to a virus carrying the normal version of the beta globin gene, Thompson said. (hon.ch)
  • C, a nucleotide substitution in the IVS I nt 108 of β-globin gene. (semanticscholar.org)
  • Molecular characterization of the abnormal Hb in the proband's father by reverse DNA sequencing (Applied Biosystems, Foster City, USA) showed the presence of a heterozygous G>C substitution at codon 21 (alpha 2 globin gene) [Figure , leading to the substitution of alanine by proline at the beginning of the beta helix corresponding to Hb Fontainebleau. (ijpmonline.org)
  • Tests included qualitative and quantitative analyses of hemoglobins and qualitative and quantitative analyses of α and β globins, as well as hemochromocytometric analysis. (mdpi.com)