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)

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

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

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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)

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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)

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
Question - What does mild anisopoikilocytosis and predominantly microcytic hypochromic mean?. Ask a Doctor about diagnosis, treatment and medication for Anemia, Ask a Radiologist
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Using the dominant control region (DCR) sequences that flank the beta-globin gene locus, we have been able to achieve high-level expression of the human alpha-globin gene in transgenic mice. Expression in fetal liver and blood is copy number dependent and at levels comparable to that of the
TY - JOUR. T1 - Modulation of mouse hemoglobin expression by hydroxyurea and erythropoietin in vivo.. AU - Alter, B. P.. AU - Wagner, C. K.. AU - Susser, L. S.. AU - Weinberg, R. S.. PY - 1989. Y1 - 1989. UR - http://www.scopus.com/inward/record.url?scp=0024795799&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0024795799&partnerID=8YFLogxK. M3 - Article. C2 - 2616578. AN - SCOPUS:0024795799. VL - 316 B. SP - 317. EP - 325. JO - Progress in Clinical and Biological Research. JF - Progress in Clinical and Biological Research. SN - 0361-7742. ER - ...
દરિયા-સ્તરના દબાણે સ્વસ્થ માનવ શ્વસન હવામાં ધમનીય લોહીના નમૂના પૈકીનો લગભગ 98.5% જેટલો પ્રાણવાયુ Hgb(હિમોગ્લોબિન) સાથે ભળી જાય છે. લગભગ 1.5% જેટલા નમૂના અન્ય રક્ત પ્રવાહીઓમાં ભળી જાય છે અને હિમોગ્લોબિન સાથે સંકળાતો નથી. સસ્તનોમાં અને અન્ય અનેક જાતોમાં હિમોગ્લોબિનના કણો એ પ્રાણવાયુના પ્રાથમિક પરિવાહકો છે(અપવાદ માટે જુઓ નીચે). હિમોગ્લોબિનની પ્રાણવાયુ બંધનકર્તા ક્ષમતા અંદાજે 1.36 અને.37 ...
Femtochemistry IX: Femtochemistry, Femtobiology, and Femtophysics - Frontries in Ultrafast Science and Technology, Beijing, China, 8-13 August 2009, p. 111 P-43 ...
Alpha thalassemia carrier. Two alpha chain genes are deleted. Alpha thalassemia minor or alpha thalassemia-1 trait are other terms for this condition. If both deleted genes are from the same #16 chromosome, it is called a cis deletion and is inherited from one parent. If instead one gene is missing from both #16 chromosomes, it is called a trans deletion and is inherited from both parents. This results in an anemia that is usually mild to moderate, but can be severe. When both parents are carriers of the cis deletion, there is a one in four, or 25 percent, chance with each pregnancy, to have a baby with alpha thalassemia major. Identifying whether an alpha thallasemia carrier has the cis deletion versus two trans deletions requires testing by DNA (deoxyribonucleic acid) analysis. DNA testing is usually done from a blood sample and looks at the alpha chain genes on each #16 chromosome, to determine which are deleted. ...
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. ...
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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.
Thalassemia is an inherited blood disorder. It is passed down from one or both parents through their genes. Learn about the4 types of alpha thalassemia, symptoms, treatment options, and more.
Anthropogenetical Analysis of Abnormal Human -globin Gene Cluster Arrangement on Chromosome 16*. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
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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
S. Svasti, Suwanmanee, T., Fucharoen, S., Moulton, H. M., Nelson, M. H., Maeda, N., Smithies, O., and Kole, R., "RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice.", Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 4, pp. 1205-10, 2009. ...
For a discussion of alpha-thalassemia, see Alpha Thalassemia. A list of HBA1 and HBA2 alpha-thalassemia mutations is on the HBA2 page. ...
Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It causes anemia in affected children. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is the part of red blood cells. It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production of hemoglobin. There are different types of thalassemia. The severity of anemia depends on the type the child has. ...
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.
Tfr1 has long been used as a marker of red blood cells and is believed to play an essential role in erythropoiesis; however, its role in HSPC is poorly understood. Here, we generated and characterized a mouse model in which Tfr1 expression was deleted specifically in HSC and observed profoundly impaired BM function and defects in multiple cell lineages. These defects, which cause cKO offspring to die within one week of age, indicate that Tfr1 plays an essential role in hematopoiesis.. Specifically, our HSC-specific Tfr1-deficient mouse model allowed us to systematically dissect the role of Tfr1 in the development of erythrocytes, granulocytes, thrombocytes, and lymphocytes. Our findings of microcytic hypochromic anemia in neonatal cKO pups and progressive erythropenia in FL of cKO embryos reveal that Tfr1 is required for erythropoiesis at an early stage, as loss of Tfr1 primarily blocked the differentiation of erythroblast precursors (e.g. proerythroblasts, polychromatophilic erythroblasts), ...
Images show peripheral blood smears containing a dimorphic population (hypochromic-microcytic, and normochromic-normocytic red blood cells). From MLS Collection, University of Alberta.. Image 1: 100x oil immersion. https://doi.org/10.7939/R3T14V447. Image 2: 50x oil immersion. https://doi.org/10.7939/R3V11W18D. Cell Description:. The peripheral blood smear shows that there are two distinct red blood cell populations present. The different red blood cell populations that may be seen are normocytic/normochromic, microcytic/hypochromic, macrocytic/normochromic.1,2. Cell Formation:. The cause for the formation of a dimorphic red blood cell population varies depending on the clinical condition.. Associated Disease/Clinical States:1-2. Sideroblastic Anemia. Myelodysplastic Syndrome (MDS). Iron, Vitamin B12, Folate deficiency (and during the early treatment stage). Post-transfusion. Erythropoietin Therapy. Note: RDW , 14.5%3. ...
This ELISA kit uses the Sandwich-ELISA principle. The micro ELISA plate provided in this kit has been pre-coated with an antigen specific to Human αHSP(Alpha-Hemoglobin Stabilizing Protein). Standards or samples are added to the micro ELISA plate wells and combined with the specific antigen. Then a biotinylated detection antigen specific for Human αHSP(Alpha-Hemoglobin Stabilizing Protein) and Avidin-Horseradish Peroxidase (HRP) conjugate are added successively to each micro plate well and incubated. Free components are washed away. The substrate solution is added to each well. Only those wells that contain Human αHSP(Alpha-Hemoglobin Stabilizing Protein), biotinylated detection antigen and Avidin-HRP conjugate will appear blue in color. The enzyme-substrate reaction is terminated by the addition of stop solution and the color turns yellow. The optical density (OD) is measured spectrophotometrically at a wavelength of 450 nm ± 2 nm. The OD value is proportional to the concentration of Human ...
Accumulating evidence converges on the possibility that chromosomes interact with each other to regulate transcription in trans. To systematically explore the epigenetic dimension of such interactions, we devised a strategy termed circular chromosome conformation capture (4C). This approach involves …
AHSP - alpha-hemoglobin stabilizing protein [ PDB file ] [ PubMed link ] Red blood cells contain an excess of the alpha-chain of hemoglobin over the beta-chain. It is known that excess alpha-globin is unstable, and its precipitation can lead to membrane damage and apoptosis. This phenomenon is the root of the beta-thalassemia phenotype, in which sufferers cannot make sufficient beta-globin. How is the normal excess of alpha-globin kept safe? The answer seems to lie in AHSP - a protein that appears to act as a specific chaperone of alpha-globin, binding to the globin and preventing its precipitation. We have determined the structure of AHSP and used NMR titration methods and mutagenesis to reveal which residues are involved in mediating this specific interaction. In addition, as part of a collaboration with Yigong Shi at Princeton, the structure of the AHSP:a-globin complex was determined by X-ray crystallography. This structure confirmed many of our predictions based on biophysical analysis of ...
Blood Trait Enhancers. Blood cell traits both represent an auspicious model to investigate genetic determinants of human phenotypic diversity and are themselves of direct clinical significance. GWAS have identified numerous loci critical for hematopoiesis, but the underlying elements and genes responsible have in only a few cases been identified and validated. We hypothesize that common genetic enhancer variation is a paradigm for the determination of traits by modulating lineage-specific gene expression. E.g. we find that ~50% of the GWAS-marked loci associated with fundamental erythroid traits have at least one trait-associated variant falling directly within an erythroid enhancer, which represents highly significant enrichment as compared to control variants or enhancers. Many enhancers are thought to be redundant or compensated fine-tuners of gene regulation, for which genetic variation has minimal impact on gene expression. We hypothesize that trait-associated enhancers are critical nodes ...
Journal of Clinical and Diagnostic Research aims to publish findings of doctors at grass root level and post graduate students, so that all unique medical experiences are recorded in literature.
The global market for alpha thalassemia is expected to grow at a CAGR of approximately 8.8% during the forecast period 2017-2023.. Get Exclusive Sample Copy @ https://www.marketresearchfuture.com/sample_request/5148 . Alpha Thalassemia Global Market - Segmentation. The alpha thalassemia is segmented on the basis of type, diagnosis, treatment, and end-users.. On the basis of the type, the market is segmented into hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome (the more severe form), HbH disease, silent carrier state, and trait.. On the basis of the diagnosis, the market is segmented into perinatal testing, prenatal testing, and pre-implantation. Further, the perinatal testing sub-categorized into complete blood count (CBC) And DNA testing. The prenatal testing segment is divided into Prenatal Genetic Testing and Chorionic Villus Sampling. On the basis of the treatment, the market is segmented into blood transfusions, iron chelation, bone marrow, or stem cell transplant, surgery and ...
There are at least 4 different and distinct alpha-thalassaemias: silent carrier (1 affected alpha-globin gene), alpha-thalassaemia trait (2 affected alpha-globin genes), Hb H disease (typically 3 affected alpha-globin genes), and Hb Bart hydrops fetalis syndrome (typically deletion of all 4 alpha...
Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by mental retardation, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia. Alpha thalassemia, which is...
Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It causes anemia in affected children. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is the part of red blood cells. It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production of hemoglobin.
Dear Doctor: My 10 months old son is getting iron and vitamin B supplements for magnets past 5 months when his anemia is diagnosed at magnets age of 5 months (9.2 g/dL). His Hb at magnets age of 7 months is 10.2 g/dL and 8 months Hb is 9.8 g/dL. Doctor recently ordered some more tests, results of which are as under:. HAEMOGRAM. Haemoglobin 10.80 g/dL. Packed Cell volume 32.00%. Leukocyte Count, total 14.20 thou/mm3. RBC Count 3.95 mill/mm3. MCV 81.00 fL. MCH 27.30 pg. MCHC 33.70 g/dL. Platelet Count 624.00 thou/mm3. Leukocyte Count, Differential :. Segmented Neutrophils 30.50%. Lymphocytes 58.80%. Monocytes 8.90%. Eosinophils 1.70%. Basophils 0.10%. E.S.R.. Westergren 21.00 mm(1 hr). Blood Picture. anisocytosis +, microcytic hypochromic RBC+. There is leucocytosis with lymphocytosis. Platelets are increased. No hemoparasite seen.. Reticulocyte Count (Automated) 1.43%. RBC Fragility Test (Osmotic Fragility Test for RBC). Mean Corpuscular Fragility (MCF) 0.46%. Haemoglobin Chromatography, ...
beta-Globins: Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
Trial of HQK-1001 in Beta Thalassemia Intermedia Trial of HQK-1001 in Beta Thalassemia Intermedia in Lebanon After a screening peri
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 oxygen-transport function of hemoglobin (HB) is thought to have arisen ~500 million years ago, roughly coinciding with the divergence between jawless (Agnatha) and jawed (Gnathostomata) vertebrates. Intriguingly, extant HBs of jawless and jawed vertebrates were shown to have evolved twice, and independently, from different ancestral globin proteins. This raises the question whether erythroid-specific expression of HB also evolved twice independently. In all jawed vertebrates studied to date, one of the Hb gene clusters is linked to the widely expressed Nprl3 gene. Here we show that the nprl3-linked hb locus of a jawless vertebrate, the river lamprey (Lampetra fluviatilis), shares a range of structural and functional properties with the equivalent jawed vertebrate Hb locus. Functional analysis demonstrates that an erythroid-specific enhancer is located in intron 7 of lamprey nprl3, which corresponds to the NPRL3 intron 7 MCS-R1 enhancer of jawed vertebrates. Collectively, our findings signify ...
Hemoglobin concentration is used to determine the diagnosis and severity of anemia in low resource settings, an indicator that is routinely screened using WHO-defined hemoglobin cutoffs. These thresholds are lower for pregnant women (females ≥ 15 years of age) than non-pregnant women (11.0 g/dl versus 12.0 g/dl). Severity of anemia is determined using additional cutoffs, with severe anemia defined as a hemoglobin level of less than 7.0 g/dl.. Iron deficiency is defined as a condition in which there are no mobilizable iron stores, resulting from a long-term negative iron balance and leading to a compromised supply of iron to the tissues. Finally, the most significant negative consequence of ID is anemia, usually microcytic hypochromic in nature.. IDA has been linked to unfavorable outcomes of pregnancy. It is the most common nutritional disorder in the world affecting two billion people worldwide with pregnant women particularly at risk. According to WHO report, 2001 indicates that IDA is a ...
Chromosome conformation capture (3C) technologies can be used to investigate 3D genomic structures. However, high background noise, high costs, and a lack of straightforward noise evaluation in current methods impede the advancement of 3D genomic research. Here we developed a simple digestion-ligation-only Hi-C (DLO Hi-C) technology to explore the 3D landscape of the genome. This method requires only two rounds of digestion and ligation, without the need for biotin labeling and pulldown. Non-ligated DNA was efficiently removed in a cost-effective step by purifying specific linker-ligated DNA fragments. Notably, random ligation could be quickly evaluated in an early quality-control step before sequencing. Moreover, an in situ version of DLO Hi-C using a four-cutter restriction enzyme has been developed. We applied DLO Hi-C to delineate the genomic architecture of THP-1 and K562 cells and uncovered chromosomal translocations. This technology may facilitate investigation of genomic organization, gene
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 ...
Background: Hypercoagulability in splenectomized patients with thalassemia intermedia (TI) has been extensively evaluated. However, clinical and laboratory characteristics of patients who eventually develop overt thromboembolic events (TEE) are poorly studied. Patients-Methods: Three Groups of TI patients (n = 73 each) were retrospectively identified from a registry involving six centers across the Middle East and Italy: Group I, all splenectomized patients with a documented TEE; Group II, age- and sex-matched splenectomized patients without TEE; and Group III, age- and sex-matched nonsplenectomized patients without TEE. Retrieved data included demographics, laboratory parameters, clinical complications, and received treatments that may influence TEE development, and reflected the period prior to TEE occurrence in Group I. Results: The mean age of Group I patients at development of TEE was 33.1 ± 11.7 years, with a male to female ratio of 33:40. TEE were predominantly venous (95percent) while ...
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]. ...
Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It may cause anemia in their children. Anemia is low numbers of red blood cells or low hemoglobin level. Hemoglobin is the part of red blood cells. It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production of hemoglobin. There are different types of thalassemia. The severity of anemia depends on the type the child has.. ...
The 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 ...
The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed.
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Each protein chain arranges into a set of alpha-helix structural segments connected together in a globin fold arrangement. Such ... differing by only one amino acid in both the alpha and the beta globin protein chains.[24] These differences grow larger ... heme/globin-containing molecules (even monomeric globin ones) that deal with gas-binding are referred to as oxyhemoglobins. In ... "Globin Gene Server. Pennsylvania State University. Retrieved 2008-10-12.. *^ Kikuchi, G.; Yoshida, T.; Noguchi, M. (2005). " ...
CYP51A1 (lanosterol 14-alpha demethylase) P450s in other species[edit]. Animals[edit]. Many animals have as many or more CYP ... 7-alpha hydroxylation of 24-hydroxycholesterol. 1 subfamily, 1 gene. CYP39A1 CYP46. cholesterol 24-hydroxylase. 1 subfamily, 1 ... steroid biosynthesis, 17-alpha hydroxylase. 1 subfamily, 1 gene. CYP17A1 CYP19. steroid biosynthesis: aromatase synthesizes ... CYP27A1 (bile acid biosynthesis), CYP27B1 (vitamin D3 1-alpha hydroxylase, activates vitamin D3), CYP27C1 (unknown function) ...
Globins. Hemoglobin. Subunits. Alpha locus on 16:. *α *HBA1. *HBA2. *pseudo. *ζ *HBZ ...
"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. PMID 2649166.. ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'.[4] ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ... The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains ...
Globin synthesis defect *sickle cell disease. *Alpha-thalassemia, e.g. HbH disease ... Second, the breast-milk of some women contains a metabolite of progesterone called 3-alpha-20-beta pregnanediol. This substance ... Alpha-1-antitrypsin deficiency, which is commonly missed, and must be considered in DDx ... alpha 1-antitrypsin deficiency, and other pediatric liver diseases should be considered. The evaluation for these will include ...
... while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene ... Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, ... Orkin SH, Michelson A (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 ...
... 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 ...
Globin superfamily - Members share an 8-alpha helix globular globin fold. Immunoglobulin superfamily - Members share a sandwich ...
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 ...
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 ...
In 1980, a study was conducted on the 3' UTR of the duplicated human alpha-globin genes. The untranslated region is seen in ... Michelson, A. M.; Orkin, S. H. (1980-11-01). "The 3' untranslated regions of the duplicated human alpha-globin genes are ... In 1978, the 5' UTR of the human gamma-globin mRNA was fully sequenced. ... untranslated region of human gamma-globin mRNA". Nucleic Acids Research. 5 (10): 3515-3522. doi:10.1093/nar/5.10.3515. ISSN ...
... defining the centromeric boundary of the human alpha-globin domain". Genomics. 71 (3): 307-14. doi:10.1006/geno.2000.6394. PMID ...
There are two subunits that make up the hemoglobin protein: beta-globins and alpha-globins. Beta-hemoglobin is created from the ... The β-globin gene is found on the short arm of chromosome 11. The association of two wild-type α-globin subunits with two ... The single nucleotide change in the beta-globin means that even the smallest of exertions on the part of the carrier results in ... Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid ...
Ribeiro, Daniela M.; Maria S. Figueiredo; Fernando F. Costa; Maria F. Sonati (2003). "Haplotypes of alpha-globin gene ...
... 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 ...
"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. ...
... 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, ...
... ; Morris Goodman; G. William Moore (1972). "Descent of Mammalian Alpha Globin Chain Sequences Investigated by the ...
"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. 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 ...
2002). "Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein". J. Biol. Chem. ... 2007). "Reversible hexacoordination of alpha-hemoglobin-stabilizing protein (AHSP)/alpha-hemoglobin Versus pressure. Evidence ... Alpha-hemoglobin-stabilizing protein is a protein that in humans is encoded by the ERAF gene. GRCh38: Ensembl release 89: ... 2006). "Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia". Ann. N. Y. Acad. Sci. 1054 ...
Kiledjian M, Wang X, Liebhaber SA (1995). "Identification of two KH domain proteins in the alpha-globin mRNP stability complex ... Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha- ...
... an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form ... "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 ...
... 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 . ...
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. ...
These hubs were discovered during observation of activated alpha- and beta-globin loci. ACHs are formed through extensive DNA ... "Looping and interaction between hypersensitive sites in the active beta-globin locus". Molecular Cell. 10 (6): 1453-65. doi: ...
Peptidylglycine alpha-amidating monooxygenase amidates peptide hormones by removing the glyoxylate residue from their c- ... "Phylogeny and Evolution of Selected Primates as Determined by Sequences of the ε-Globin Locus and 5′ Flanking Regions". ... Eipper BA, Stoffers DA, Mains RE (1992). "The biosynthesis of neuropeptides: peptide alpha-amidation". Annual Review of ... "Peptidylglycine alpha-amidating monooxygenase: a multifunctional protein with catalytic, processing, and routing domains" ...
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 ...
... we have been able to achieve high-level expression of the human alpha-globin gene in transgenic mice. Expression in fetal liver ... sequences that flank the beta-globin gene locus, ... Using a construct with both the human alpha- and beta-globin ... 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 ...
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 ...
... 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- ...
... alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic ... Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal ... Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter. ... alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic ...
In endothelial cells, the alpha chain of hemoglobin (hereafter, alpha globin) and endothelial NO synthase form a macromolecular ... We have developed an alpha globin mimetic peptide (named HbαX) that displaces endogenous alpha globin and increases ... In endothelial cells, the alpha chain of hemoglobin (hereafter, alpha globin) and endothelial NO synthase form a macromolecular ... Modulating Vascular Hemodynamics With an Alpha Globin Mimetic Peptide (HbαX) Hypertension. 2016 Dec;68(6):1494-1503. doi: ...
Influence of βS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia. Rev Bras Hematol ... Comment on "Influence of βS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia"☆ ... Levels of tumor necrosis factor alpha/cachectin (TNF alpha) in sera from patients with sickle cell disease. Acta Haematol. 1993 ... TNF-alpha and IL8:Serum levels and gene polymorphisms (308G,A and 251A,T) are associated with classical biomarkers and medical ...
Alpha Thalassemia is a common hereditary trait and disease among individuals of Asian heritage. Disease ranges in severity from ...
This assay can be used instead of Southern Blot analysis to determine the total number of intact alpha globin genes. ... Information (MCV, Blood Work, Age, Alpha Globin mutations detected, ethnicity). For other sample types please contact the ... HBA1 or HBA2 gene in patients or their family members suspected of having alpha thalassemia or who are carriers of alpha globin ... The assay can also be used in the prenatal diagnosis of alpha thalassemia. The assay does not determine the type or breakpoint ...
... alpha 3.7, -alpha 4.2, alpha Hphl, alpha Ncol, --MED, -(alpha)20.5, alpha alpha alpha anti3.7]. The electrophoretic patterns ... METHODS AND RESULTS A new set of PCR techniques, each based on primer(s) specific for a particular type of alpha globin gene ... They lead to the identification of all alpha globin disorders common in the Mediterranean area [- ... specific for the main alpha globin alterations as observed with this set of techniques, are presented. CONCLUSIONS Owing to ...
A major regulatory element required for expression of the human alpha-globin genes is located 40 kb upstream of the embryonic ... In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated ... In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated ... In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated ...
We address this issue by using as a highly informative system the duplicated alpha-globin genes in which ectopic recombination ... Finally, direct knowledge of germ-line deletion rates can give insights into the fitness of individuals with these alpha-globin ... Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. ...
Chromatin organisation at the alpha globin locus Brown JM., Babbs C., Roberts N., Jeziorska D., Graham B., Szczerbal I., Hughes ...
Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA ... DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. ... We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of ... unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin ...
The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β ... Alpha thalassaemia and extended alpha globin genes in Sri Lanka. Suresh S., Fisher C., Ayyub H., Premawardhena A., Allen A., ... The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β ... alpha-Globins, alpha-Thalassemia ... Alpha thalassaemia and extended alpha globin genes in Sri Lanka ...
Alpha globin gene triplications result in three active alpha globin genes on a single chromosome.. Incidence: Carrier frequency ... Background Information: Alpha Globin (HBA1 and HBA2) Deletion/Duplication. Characteristics: Alpha thalassemia is caused by ... both a deletion and duplication within the alpha globin gene cluster may appear to have a normal number of alpha globin gene ... Alpha (+) thalassemia results from mutation of a single alpha2 globin gene (-a/aa) and is clinically asymptomatic (silent ...
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 ...
High-resolution X-ray study of deoxy recombinant human hemoglobins synthesized from beta-globins having mutated amino termini. ... Description: HEMOGLOBIN (DEOXY) (ALPHA CHAIN) protein , Length: 141 No structure alignment results are available for 1DXV.A, ... HIGH-RESOLUTION X-RAY STUDY OF DEOXY RECOMBINANT HUMAN HEMOGLOBINS SYNTHESIZED FROM BETA-GLOBINS HAVING MUTATED AMINO TERMINI. ...
A TEST OF NATURAL SELECTION ON ALPHA-GLOBIN VARIATION. *Storz, Jay F (PI) ... The objectives of the Andy are (1) to document geographic patterns of sequence variation in the a-globin gene region of P. ... This study will involve a molecular genetic analysis of a two-locus a-globin polymorphism in populations of P. maniculatw that ... globin variation using an array of newly developed statistical methods; (3) to determine the strength of epistatic selection ...
... two or three functional alpha-globin genes) are lower than HbF levels in SS individuals with four normal alpha-globin genes. ... 32 subjects with three alpha genes, and 18 subjects with two alpha genes. Comparison between alpha-globin gene groups was ... did not change significantly with alpha-globin gene number. Moreover, no correlation existed between alpha-globin gene number ... HbF levels were 6.8, 4.9, and 4.5 percent for the total four-, three-, and two-alpha-globin-gene groups, respectively. The ...
Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran Ebrahim Miri-Moghaddam 1 , Abass ... Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran Ebrahim Miri-Moghaddam et al. Int ... A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989;73(5):1081-1104. - PubMed ... globin gene. Conclusion : Knowing the alpha-genotype is helpful for genetic counseling, microcytic anemia discrimination and ...
Regulation of human alpha-globin gene expression and alpha-thalassemia. Ribeiro DM, Sonati MF. Ribeiro DM, et al. Genet Mol Res ... Incidence of alpha-globin gene defect in the Lebanese population: a pilot study Chantal Farra 1 , Rose Daher 2 , Rebecca Badra ... Incidence of alpha-globin gene defect in the Lebanese population: a pilot study Chantal Farra et al. Biomed Res Int. 2015. . ... Development of a quantitative real-time PCR assay for detection of unknown alpha-globin gene deletions. Fallah MS, Mahdian R, ...
... physiology of beta-globin variants and alpha-globin recombinants. Evolution 42: 681-688. ... Aguileta, G., J. P. Bielawski and Z. H. Yang, 2006 Proposed standard nomenclature for the alpha- and beta-globin gene families ... β-Globins produced by Hbbs mice migrate during electrophoresis as a dimer with α-globin and produce a single band (hence the S ... β-Globins produced by Hbbd mice migrate during electrophoresis as a dimer with α-globin and produce double bands (hence the D ...
Globin synthesis defect *sickle cell disease. *Alpha-thalassemia, e.g. HbH disease ... Second, the breast-milk of some women contains a metabolite of progesterone called 3-alpha-20-beta pregnanediol. This substance ... Alpha-1-antitrypsin deficiency, which is commonly missed, and must be considered in DDx ... alpha 1-antitrypsin deficiency, and other pediatric liver diseases should be considered. The evaluation for these will include ...
Mild sickle cell anemia associated with alpha globin mutant alpha montgomery. The American Journal of Medicine. 1989;86(2 C): ... Mild sickle cell anemia associated with alpha globin mutant alpha montgomery. In: The American Journal of Medicine. 1989 ; Vol ... Mild sickle cell anemia associated with alpha globin mutant alpha montgomery. Josef T. Prchal, Charlie M. Scott, Samuel Rahbar ... Mild sickle cell anemia associated with alpha globin mutant alpha montgomery. / Prchal, Josef T.; Scott, Charlie M.; Rahbar, ...
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