Alpha globins. Medical search

A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.

Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.

A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.

A genus of the family HYLOBATIDAE consisting of six species. The members of this genus inhabit rain forests in southeast Asia. They are arboreal and differ from other anthropoids in the great length of their arms and very slender bodies and limbs. Their major means of locomotion is by swinging from branch to branch by their arms. Hylobates means dweller in the trees. Some authors refer to Symphalangus and Nomascus as Hylobates. The six genera include: H. concolor (crested or black gibbon), H. hoolock (Hoolock gibbon), H. klossii (Kloss's gibbon; dwarf siamang), H. lar (common gibbon), H. pileatus (pileated gibbon), and H. syndactylus (siamang). H. lar is also known as H. agilis (lar gibbon), H. moloch (agile gibbon), and H. muelleri (silvery gibbon).

A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.

Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.

Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.

Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.

A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.

Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

An individual having different alleles at one or more loci regarding a specific character.

Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.

RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.

A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).

A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)

Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

Any method used for determining the location of and relative distances between genes on a chromosome.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

Actual loss of portion of a chromosome.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

DNA sequences recognized as signals to end GENETIC TRANSCRIPTION.

DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.

One of the two major pharmacological subdivisions of adrenergic receptors that were originally defined by the relative potencies of various adrenergic compounds. The alpha receptors were initially described as excitatory receptors that post-junctionally stimulate SMOOTH MUSCLE contraction. However, further analysis has revealed a more complex picture involving several alpha receptor subtypes and their involvement in feedback regulation.

A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by OXYGEN availability and is targeted for degradation by VHL TUMOR SUPPRESSOR PROTEIN.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.

Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.

A member of the NICOTINIC ACETYLCHOLINE RECEPTOR subfamily of the LIGAND-GATED ION CHANNEL family. It consists entirely of pentameric a7 subunits expressed in the CNS, autonomic nervous system, vascular system, lymphocytes and spleen.

A regulatory region first identified in the human beta-globin locus but subsequently found in other loci. The region is believed to regulate GENETIC TRANSCRIPTION by opening and remodeling CHROMATIN structure. It may also have enhancer activity.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Chloro(7,12-diethenyl-3,8,13,17-tetramethyl-21H,23H-porphine-2,18-dipropanoato(4-)-N(21),N(22),N(23),N(24)) ferrate(2-) dihydrogen.

Cell surface receptor for LAMININ, epiligrin, FIBRONECTINS, entactin, and COLLAGEN. Integrin alpha3beta1 is the major integrin present in EPITHELIAL CELLS, where it plays a role in the assembly of BASEMENT MEMBRANE as well as in cell migration, and may regulate the functions of other integrins. Two alternatively spliced isoforms of the alpha subunit (INTEGRIN ALPHA3), are differentially expressed in different cell types.

An integrin alpha subunit that is unique in that it does not contain an I domain, and its proteolytic cleavage site is near the middle of the extracellular portion of the polypeptide rather than close to the membrane as in other integrin alpha subunits.

An integrin alpha subunit that primarily associates with INTEGRIN BETA1 or INTEGRIN BETA4 to form laminin-binding heterodimers. Integrin alpha6 has two alternatively spliced isoforms: integrin alpha6A and integrin alpha6B, which differ in their cytoplasmic domains and are regulated in a tissue-specific and developmental stage-specific manner.

Genes that cause the epigenotype (i.e., the interrelated developmental pathways through which the adult organism is realized) to switch to an alternate cell lineage-related pathway. Switch complexes control the expression of normal functional development as well as oncogenic transformation.

An integrin found in FIBROBLASTS; PLATELETS; MONOCYTES, and LYMPHOCYTES. Integrin alpha5beta1 is the classical receptor for FIBRONECTIN, but it also functions as a receptor for LAMININ and several other EXTRACELLULAR MATRIX PROTEINS.

The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.

A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.

Integrin alpha4beta1 is a FIBRONECTIN and VCAM-1 receptor present on LYMPHOCYTES; MONOCYTES; EOSINOPHILS; NK CELLS and thymocytes. It is involved in both cell-cell and cell- EXTRACELLULAR MATRIX adhesion and plays a role in INFLAMMATION, hematopoietic cell homing and immune function, and has been implicated in skeletal MYOGENESIS; NEURAL CREST migration and proliferation, lymphocyte maturation and morphogenesis of the PLACENTA and HEART.

An interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form. Unlike INTERLEUKIN-1BETA both membrane-bound and secreted forms of interleukin-1alpha are biologically active.

The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.

The series of cells in the red blood cell lineage at various stages of differentiation.

An integrin found on fibroblasts, platelets, endothelial and epithelial cells, and lymphocytes where it functions as a receptor for COLLAGEN and LAMININ. Although originally referred to as the collagen receptor, it is one of several receptors for collagen. Ligand binding to integrin alpha2beta1 triggers a cascade of intracellular signaling, including activation of p38 MAP kinase.

A subclass of alpha-adrenergic receptors that mediate contraction of SMOOTH MUSCLE in a variety of tissues such as ARTERIOLES; VEINS; and the UTERUS. They are usually found on postsynaptic membranes and signal through GQ-G11 G-PROTEINS.

This integrin alpha subunit combines with INTEGRIN BETA1 to form a receptor (INTEGRIN ALPHA5BETA1) that binds FIBRONECTIN and LAMININ. It undergoes posttranslational cleavage into a heavy and a light chain that are connected by disulfide bonds.

Integrin alpha1beta1 functions as a receptor for LAMININ and COLLAGEN. It is widely expressed during development, but in the adult is the predominant laminin receptor (RECEPTORS, LAMININ) in mature SMOOTH MUSCLE CELLS, where it is important for maintenance of the differentiated phenotype of these cells. Integrin alpha1beta1 is also found in LYMPHOCYTES and microvascular endothelial cells, and may play a role in angiogenesis. In SCHWANN CELLS and neural crest cells, it is involved in cell migration. Integrin alpha1beta1 is also known as VLA-1 and CD49a-CD29.

Immature, nucleated ERYTHROCYTES occupying the stage of ERYTHROPOIESIS that follows formation of ERYTHROID PRECURSOR CELLS and precedes formation of RETICULOCYTES. The normal series is called normoblasts. Cells called MEGALOBLASTS are a pathologic series of erythroblasts.

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.

Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.

A subclass of alpha-adrenergic receptors found on both presynaptic and postsynaptic membranes where they signal through Gi-Go G-PROTEINS. While postsynaptic alpha-2 receptors play a traditional role in mediating the effects of ADRENERGIC AGONISTS, the subset of alpha-2 receptors found on presynaptic membranes signal the feedback inhibition of NEUROTRANSMITTER release.

The rate dynamics in chemical or physical systems.

The parts of a macromolecule that directly participate in its specific combination with another molecule.

A cell surface receptor mediating cell adhesion to the EXTRACELLULAR MATRIX and to other cells via binding to LAMININ. It is involved in cell migration, embryonic development, leukocyte activation and tumor cell invasiveness. Integrin alpha6beta1 is the major laminin receptor on PLATELETS; LEUKOCYTES; and many EPITHELIAL CELLS, and ligand binding may activate a number of signal transduction pathways. Alternative splicing of the cytoplasmic domain of the alpha6 subunit (INTEGRIN ALPHA6) results in the formation of A and B isoforms of the heterodimer, which are expressed in a tissue-specific manner.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.

The cells in the erythroid series derived from MYELOID PROGENITOR CELLS or from the bi-potential MEGAKARYOCYTE-ERYTHROID PROGENITOR CELLS which eventually give rise to mature RED BLOOD CELLS. The erythroid progenitor cells develop in two phases: erythroid burst-forming units (BFU-E) followed by erythroid colony-forming units (CFU-E); BFU-E differentiate into CFU-E on stimulation by ERYTHROPOIETIN, and then further differentiate into ERYTHROBLASTS when stimulated by other factors.

Members of the beta-globin family. In humans, two non-allelic types of gamma-globin - A gamma and G gamma are encoded in the beta-globin gene cluster on CHROMOSOME 11. Two gamma-globin chains combine with two ZETA-GLOBIN chains to form the embryonic hemoglobin Portland. Fetal HEMOGLOBIN F is formed from two gamma-globin chains combined with two ALPHA-GLOBIN chains.

This intrgrin is a key component of HEMIDESMOSOMES and is required for their formation and maintenance in epithelial cells. Integrin alpha6beta4 is also found on thymocytes, fibroblasts, and Schwann cells, where it functions as a laminin receptor (RECEPTORS, LAMININ) and is involved in wound healing, cell migration, and tumor invasiveness.

The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.

The alpha subunits of integrin heterodimers (INTEGRINS), which mediate ligand specificity. There are approximately 18 different alpha chains, exhibiting great sequence diversity; several chains are also spliced into alternative isoforms. They possess a long extracellular portion (1200 amino acids) containing a MIDAS (metal ion-dependent adhesion site) motif, and seven 60-amino acid tandem repeats, the last 4 of which form EF HAND MOTIFS. The intracellular portion is short with the exception of INTEGRIN ALPHA4.

Proteins prepared by recombinant DNA technology.

The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.

A family of transmembrane glycoproteins (MEMBRANE GLYCOPROTEINS) consisting of noncovalent heterodimers. They interact with a wide variety of ligands including EXTRACELLULAR MATRIX PROTEINS; COMPLEMENT, and other cells, while their intracellular domains interact with the CYTOSKELETON. The integrins consist of at least three identified families: the cytoadhesin receptors(RECEPTORS, CYTOADHESIN), the leukocyte adhesion receptors (RECEPTORS, LEUKOCYTE ADHESION), and the VERY LATE ANTIGEN RECEPTORS. Each family contains a common beta-subunit (INTEGRIN BETA CHAINS) combined with one or more distinct alpha-subunits (INTEGRIN ALPHA CHAINS). These receptors participate in cell-matrix and cell-cell adhesion in many physiologically important processes, including embryological development; HEMOSTASIS; THROMBOSIS; WOUND HEALING; immune and nonimmune defense mechanisms; and oncogenic transformation.

An integrin alpha subunit that binds COLLAGEN and LAMININ though its I domain. It combines with INTEGRIN BETA1 to form the heterodimer INTEGRIN ALPHA1BETA1.

Brain waves characterized by a relatively high voltage or amplitude and a frequency of 8-13 Hz. They constitute the majority of waves recorded by EEG registering the activity of the parietal and occipital lobes when the individual is awake, but relaxed with the eyes closed.

Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.

An integrin alpha subunit that occurs as alternatively spliced isoforms. The isoforms are differentially expressed in specific cell types and at specific developmental stages. Integrin alpha3 combines with INTEGRIN BETA1 to form INTEGRIN ALPHA3BETA1 which is a heterodimer found primarily in epithelial cells.

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.

The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.

A family of hemoglobin-like proteins found in BACTERIA; PLANTS; and unicellular eukaryotes. Truncated hemoglobins are distantly related to vertebrate hemoglobins and are typically shorter than vertebrate hemoglobins by 20-40 residues.

One of the two major classes of cholinergic receptors. Nicotinic receptors were originally distinguished by their preference for NICOTINE over MUSCARINE. They are generally divided into muscle-type and neuronal-type (previously ganglionic) based on pharmacology, and subunit composition of the receptors.

Drugs that selectively bind to and activate alpha adrenergic receptors.

A tissue-specific subunit of NF-E2 transcription factor that interacts with small MAF PROTEINS to regulate gene expression. P45 NF-E2 protein is expressed primarily in MEGAKARYOCYTES; ERYTHROID CELLS; and MAST CELLS.

A nuclear transcription factor. Heterodimerization with RETINOID X RECEPTOR GAMMA is important to metabolism of LIPIDS. It is the target of FIBRATES to control HYPERLIPIDEMIAS.

A naturally occurring prostaglandin that has oxytocic, luteolytic, and abortifacient activities. Due to its vasocontractile properties, the compound has a variety of other biological actions.

Drugs that bind to but do not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists. Adrenergic alpha-antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma.

Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.

Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.

A group of transcription factors that were originally described as being specific to ERYTHROID CELLS.

The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.

Established cell cultures that have the potential to propagate indefinitely.

A basic-leucine zipper transcription factor that regulates GLOBIN gene expression and is related to TRANSCRIPTION FACTOR AP-1. NF-E2 consists of a small MAF protein subunit and a tissue-restricted 45 kDa subunit.

A highly polar organic liquid, that is used widely as a chemical solvent. Because of its ability to penetrate biological membranes, it is used as a vehicle for topical application of pharmaceuticals. It is also used to protect tissue during CRYOPRESERVATION. Dimethyl sulfoxide shows a range of pharmacological activity including analgesia and anti-inflammation.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.

Hepatocyte nuclear factor 1-alpha is a transcription factor found in the LIVER; PANCREAS; and KIDNEY that regulates HOMEOSTASIS of GLUCOSE.

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

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

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

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

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

(+info)

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

(+info)

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

(+info)

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

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

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

(+info)

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

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

"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... 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 ...

https://en.wikipedia.org/wiki/Human_β-globin_locus

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 ...

https://en.wikipedia.org/wiki/Globin

... while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene ... Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, ... Orkin SH, Michelson A (July 1980). "Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia". Nature. ... The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta1 - 3'. GRCh38: Ensembl release ...

https://en.wikipedia.org/wiki/Hemoglobin_subunit_zeta

August 2005). "A newly discovered human alpha-globin gene". Blood. 106 (4): 1466-72. doi:10.1182/blood-2005-03-0948. PMC ... The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta1 - 3'. Higgs DR, Vickers MA, ... Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (April 1989). "A review of the molecular genetics of the human alpha-globin ... islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of ...

https://en.wikipedia.org/wiki/Mu_hemoglobin

Globin superfamily Members share an 8-alpha helix globular globin fold. Immunoglobulin superfamily Members share a sandwich- ...

https://en.wikipedia.org/wiki/Protein_superfamily

... 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 ...

https://en.wikipedia.org/wiki/Hemoglobin,_alpha_2

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 ...

https://en.wikipedia.org/wiki/TFCP2

Each protein chain arranges into a set of alpha-helix structural segments connected together in a globin fold arrangement. Such ... The hemoglobin subunit alpha 1 and alpha 2 are coded by the genes HBA1 and HBA2, respectively, which are both on chromosome 16 ... 2009). "Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells". Proceedings of ... without even a single amino acid difference in either the alpha or the beta globin protein chains. Whereas the human and ...

https://en.wikipedia.org/wiki/Hemoglobin

"Regulation of Globin Gene Expression". {{cite journal}}: Cite journal requires ,journal= (help) "World Renowned Geneticist ... Smaglik, Paul (2007-11-28). "Richard Myers, director of Hudson-Alpha Institute for Biotechnology, Huntsville, Alabama". Nature ... His team sought to understand globin gene expression, studying both cis- and trans-acting components that regulate ... Smaglik, Paul (2007-11-28). "Richard Myers, director of Hudson-Alpha Institute for Biotechnology, Huntsville, Alabama". Nature ...

https://en.wikipedia.org/wiki/Richard_M._Myers

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: ...

https://en.wikipedia.org/wiki/Nuclear_organization

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. GRCh38: Ensembl release 89: ENSG00000225323 - Ensembl, ...

https://en.wikipedia.org/wiki/HBAP1

For example, ATRX mutations affect the expression of alpha-globin gene cluster, causing alpha-thalassemia." ATRX interacts with ... Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, ... GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; ATRX Syndrome; Alpha Thalassemia/ ... This group is important for regulating the transcription of the alpha genes. If ATR-X is suspected based on symptoms, diagnosis ...

https://en.wikipedia.org/wiki/ATR-X_syndrome

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 ...

https://en.wikipedia.org/wiki/Untranslated_region

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

https://en.wikipedia.org/wiki/LUC7L

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 ...

https://en.wikipedia.org/wiki/Point_mutation

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

https://en.wikipedia.org/wiki/White_Amazonian_Indians

Differences in the regulated expression of cloned human alpha globin and beta globin genes introduced into MEL cells: the role ... Basis for regulating the expression of human alpha- and beta-globin genes. Discovery of a family of vertebrate genes encoding ... Transcriptional regulation of globin gene expression in the human erythroid cell line K562 », Science, (1983), 220, p. 1281- ... where he studied the molecular basis for the regulation of globin gene expression. In 1984, he joined the European Molecular ...

https://en.wikipedia.org/wiki/Patrick_Charnay

... two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin gene deletions). Deletion of ... it begins to produce alpha-globins at weeks 5-6 of development. When both of the HBA1 and HBA2 genes which code for alpha ... These gamma globins bind to form hemoglobin Barts. It is produced in the disease alpha-thalassemia and in the most severe of ... Table 1: α represents the presence of α-globin gene and- represents the deletion of α-globin gene. The chance of a fetus ...

https://en.wikipedia.org/wiki/Hemoglobin_Barts

"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... Mutations in the delta-globin gene are associated with Delta-thalassemia. Hemoglobin Human β-globin locus Thalassemia GRCh38: ... Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma-G - ... Two alpha chains plus two delta chains constitute HbA2, which with HbF comprises the remaining 3% of adult hemoglobin. ...

https://en.wikipedia.org/wiki/HBD

... β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB gene, which along with alpha globin (HBA ... Expression of beta globin and the neighbouring globins in the β-globin locus is controlled by single locus control region (LCR ... Hemoglobin subunit alpha Human β-globin locus GRCh38: Ensembl release 89: ENSG00000244734 - Ensembl, May 2017 GRCm38: Ensembl ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ...

https://en.wikipedia.org/wiki/Hemoglobin_subunit_beta

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

https://en.wikipedia.org/wiki/John_Barnabas

"A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... The gamma globin genes (HBG1 and HBG2, this gene) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. GRCh38: Ensembl ... chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at ...

https://en.wikipedia.org/wiki/HBG2

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 ...

https://en.wikipedia.org/wiki/ERAF

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- ...

https://en.wikipedia.org/wiki/PCBP4

... an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form ... Hemoglobin Human β-globin locus Hemoglobin alpha chains (two genes, same sequence): HBA1 HBA2 GRCh38: Ensembl release 89: ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains ...

https://en.wikipedia.org/wiki/HBE1

... suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin ... as a component of the alpha-globin mRNA stability complex". Mol. Cell. Biol. 17 (8): 4870-6. doi:10.1128/MCB.17.8.4870. PMC ... "Identification of two KH domain proteins in the alpha-globin mRNP stability complex". EMBO J. 14 (17): 4357-64. doi:10.1002/j. ...

https://en.wikipedia.org/wiki/PCBP1

Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ... Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 ... Gonzalez-Redondo JM, Han IS, Gu YC, Huisman TH (1988). "Nucleotide sequence of the human theta 1-globin gene". Biochem. Genet. ...

https://en.wikipedia.org/wiki/HBQ1

It consists of a five-prime cap; a five prime untranslated region derived from the sequence of human alpha globin; a signal ... In this case, a person who received two doses of the Pfizer vaccine was 93.7% less likely to contract the alpha variant and ... During this period, according to Nextstrain, the dominant variant in Israel was lineage B.1.1.50 and the Alpha variant was ... Notably, effectiveness after one dose of the Pfizer vaccine was 48.7% against alpha and 30.7% against delta, similar to ...

https://en.wikipedia.org/wiki/Pfizer–BioNTech_COVID-19_vaccine

https://en.wikipedia.org/wiki/PCBP3

... 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. doi:10.1128/MCB.17.8.4870. PMC ...

https://en.wikipedia.org/wiki/PCBP2

November 1993). "A third recognition element in bacterial promoters: DNA binding by the alpha subunit of RNA polymerase". ... moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element". ... subsite structure of UP elements and interactions with the carboxy-terminal domain of the RNA polymerase alpha subunit". Genes ...

https://en.wikipedia.org/wiki/Promoter_(genetics)

It is composed of two alpha chains and two epsilon chains, and is somewhat unstable, though not as much as hemoglobin Gower 1. ... and β-Thalassemias in Mice by Expression of Human Embryonic Globins". Blood. 92 (9): 3057-3063. doi:10.1182/blood.V92.9.3057. ... alpha(2)epsilon(2)), and Portland-2 (zeta(2)beta(2)) assembled in complex transgenic-knockout mice". Blood. 97 (4): 1099-1105. ... has been proposed as a candidate for reactivation in cases of severe α thalassemia or hemoglobinopathies afflicting the alpha ...

https://en.wikipedia.org/wiki/Embryonic_hemoglobin

... alpha adrenergic receptor - alpha helix - alpha-1 adrenergic receptor - alpha-2 adrenergic receptor - alpha-beta T-cell antigen ... globin - glucagon - glucagon receptor - glucocorticoid receptor - glucose - glutamate - glutamate receptor - glutamic acid - ... receptor - alpha-fetoprotein - alpha-globulin - alpha-macroglobulin - alpha-MSH - Ames test - amide - amine - amino - amino ... transforming growth factor alpha - transforming growth factor beta - transforming growth factor beta receptor - transient ...

https://en.wikipedia.org/wiki/Index_of_biochemistry_articles

Tahara T, Sun J, Igarashi K, Taketani S (Nov 2004). "Heme-dependent up-regulation of the alpha-globin gene expression by ... "Heme positively regulates the expression of beta-globin at the locus control region via the transcriptional factor Bach1 in ...

https://en.wikipedia.org/wiki/BACH1

Ottolenghi S, Mantovani R, Nicolis S, Ronchi A, Giglioni B (1990). "DNA sequences regulating human globin gene transcription in ... Interleukin1-alpha, and Cyclo-oxygenase 2 (COX2) genes. Genetic data from over 7,600 cancer patients shows that over 1% has the ...

https://en.wikipedia.org/wiki/CUTL1

1995). "Cooperative action of cellular proteins YB-1 and Pur alpha with the tumor antigen of the human JC polyomavirus ... domain binds specifically to H-DNA upstream from the human gamma-globin genes". J. Biol. Chem. 269 (19): 14130-9. doi:10.1016/ ... between single-stranded DNA-binding proteins associated with an essential MCAT element in the mouse smooth muscle alpha-actin ...

https://en.wikipedia.org/wiki/Y_box_binding_protein_1

Pandur E, Nagy J, Poór VS, Sarnyai A, Huszár A, Miseta A, Sipos K (April 2009). "Alpha-1 antitrypsin binds preprohepcidin ... β-thalassemia, one of the most common congenital anemias, arises from partial or complete lack of β-globin synthesis. Excessive ... This conversion may be regulated by alpha-1 antitrypsin. Hepcidin is a tightly folded polypeptide with 32% beta sheet character ... and also decreases formation of insoluble membrane-bound globins and reactive oxygen species, and improves anemia. Mice with ...

https://en.wikipedia.org/wiki/Hepcidin

The globin portion of hemoglobin is degraded to its constitutive amino acids, and the heme portion is metabolized to bilirubin ... "Hepatic splenosis mimicking HCC in a patient with hepatitis C liver cirrhosis and mildly raised alpha feto protein; the ...

https://en.wikipedia.org/wiki/Spleen

A helix bundle is a small protein fold composed of several alpha helices that are usually nearly parallel or antiparallel to ... a much shallower incline than in the larger helical structure of the globin fold. The specific topology of the helices is ... cytochrome c fold SCOP nucleic acid-binding three-helix bundles SCOP four-helix bundles SCOP Rop-like proteins SCOP all-alpha ...

https://en.wikipedia.org/wiki/Helix_bundle

... and regulation of globin gene expression during development; member of National Academy of Sciences M.G. Finn, BS 1980 Gerald ... Alpha+2017.pdf. {{cite web}}: Missing or empty ,title= (help) "Sites.unc.edu". "Stephen F. Heinemann, pioneering Salk ...

https://en.wikipedia.org/wiki/List_of_California_Institute_of_Technology_people

Since the amino acid substitution can occur at different positions of the β-globin chain of the protein, there are several ... alpha 30 (B11) Glu -- Lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient". ...

https://en.wikipedia.org/wiki/Hemoglobin_O

... tumor necrosis factor-alpha (TNF-alpha), tumor necrosis factor-beta (TNF-beta), interleukin-6 (IL-6 ), interleukin-8 (IL-8), ... a new human erythroleukemia cell line with spontaneous and induced globin expression". Science. 216 (4551): 1233-5. Bibcode: ... tumor necrosis factor-alpha (TNF-alpha), tumor necrosis factor-beta (TNF-beta), interleukin-6 (IL-6 ), interleukin-8 (IL-8), ... Tanaka M, Shimbo T, Kikuchi Y, Matsuda M, Kaneda Y (April 2010). "Sterile alpha motif containing domain 9 is involved in death ...

https://en.wikipedia.org/wiki/Murine_respirovirus

Macrophages phagocytose free hemoglobin and split it into heme and globin. Two reactions then take place with the heme molecule ... spherocytosis Glucose-6-phosphate dehydrogenase deficiency Pyruvate kinase deficiency ABO/Rh blood type autoantibodies Alpha 1- ...

https://en.wikipedia.org/wiki/Jaundice

Other symbionts belong to the class Delta-, Alpha- and Gammaproteobacteria. The Candidatus Endoriftia persephone ( ... which is bright red due to the presence of hemoglobin that contain up to 144 globin chains (each presumably including ... "Evolution of the sulfide-binding function within the globin multigenic family of the deep-sea hydrothermal vent tubeworm Riftia ...

https://en.wikipedia.org/wiki/Riftia_pachyptila

Hu, Wei-Shau (1987). Homologous DNA recombination in primate cells of human adult alpha globin gene duplication units. Davis, ... Her dissertation was titled Homologous DNA recombination in primate cells of human adult alpha globin gene duplication units. ... She studied the mechanisms of DNA recombination that lead to human alpha-thalassemia in James Shen's laboratory. Under Howard ...

https://en.wikipedia.org/wiki/Wei-Shau_Hu

Bhat SP, Nagineni CN (Jan 1989). "alpha B subunit of lens-specific protein alpha-crystallin is present in other ocular and non- ... Unlike other proteins performing highly specialized tasks, such as globin or rhodopsin, the crystallins are very diverse and ... Ingolia TD, Craig EA (Apr 1982). "Four small Drosophila heat shock proteins are related to each other and to mammalian alpha- ... Kato K, Shinohara H, Kurobe N, Goto S, Inaguma Y, Ohshima K (Oct 1991). "Immunoreactive alpha A crystallin in rat non- ...

https://en.wikipedia.org/wiki/Protein_moonlighting

... and maternal diabetes mellitus Alpha-thalassemia can also cause hydrops fetalis when all four of the genetic loci for α globin ... Severely anemic fetuses, including those with Rh disease and alpha thalassemia major, can be treated with blood transfusions ... Vichinsky, Elliott P. (2009-01-01). "Alpha thalassemia major-new mutations, intrauterine management, and outcomes". Hematology ...

https://en.wikipedia.org/wiki/Hydrops_fetalis

Alpha-thalassemia has also been found to decrease HbS levels where the co-inheritance of alpha gene deletions reduce red blood ... Co-inheritance of microdeletions in the -globin gene (thalassemia) appear to protect against the development of nephropathy and ...

https://en.wikipedia.org/wiki/Sickle_cell_nephropathy

Usually there are four genes that code for alpha globin and two genes that code for beta globin. If the genes for alpha chains ... With most of these variants are mutations in the alpha globin gene that result in an abnormally long alpha chain and an ... Hb H usually occurs in some alpha thalassemia and is composed of four beta globin (protein) chains. This variant is usually ... The level of severity of alpha thalassemia is determined by the number of genes that are affected.[citation needed] Hemoglobin ...

https://en.wikipedia.org/wiki/Hemoglobin_variants

... comparison of complementary DNA encoding Hp alpha 1S and Hp alpha 2FS". Nucleic Acids Res. 12 (11): 4531-8. doi:10.1093/nar/ ... Following Hb-Hp binding to CD163, cellular internalization of the complex leads to globin and heme metabolism, which is ... "Characterization of human haptoglobin cDNAs coding for alpha 2FS beta and alpha 1S beta variants". FEBS Lett. 168 (1): 103-7. ... The HP gene encodes a preproprotein that is processed to yield both alpha and beta chains, which subsequently combines as a ...

https://en.wikipedia.org/wiki/Haptoglobin

The translation of reticulocyte 9S RNA in frog oocytes gives rise to alpha and beta globin chains. Communication to FEBS ... The key role of Gerard Marbaix (who prepared the globin mRNA) is apparent from the landmark paper. A vital question was the ...

https://en.wikipedia.org/wiki/Charles_Daniel_Lane

Huang WY, Cukerman E, Liew CC (1995). "Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and ... "An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes". Proc. Natl. ... "Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy-chain gene". Mol. Cell. Biol ...

https://en.wikipedia.org/wiki/GATA4

Alpha globin variation in the long-tailed macaque suggests malaria selection. View ORCID ProfileC.L. Faust, F. Rangkuti, S. G. ... Alpha globin variation in the long-tailed macaque suggests malaria selection Message Subject (Your Name) has forwarded a page ... We demonstrate that alpha globin variation in M. fascicularis correlates with the strength of malaria selection. We identify a ... Almost all M. fascicularis haemoglobin variation is in the alpha globin chain, encoded by two linked genes: HBA1 and HBA2. ...

https://www.biorxiv.org/content/10.1101/2020.10.21.344853v1

Alpha-globin transcription factor CP2, SAA3 enhancer factor, Transcription factor LSF, TFCP2, LSF, SEF ...

https://www.gbiosciences.com/IT14666

... kb fragment that contained only the hemoglobin alpha globin gene-2 gene. This finding led to screening and follow up in first- ... in intron 1 of the hemoglobin beta globin gene and a non-pathogenic sequence variant (single nucleotide polimorfism (SNP) ... From: Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in ...

https://bmcresnotes.biomedcentral.com/articles/10.1186/s13104-016-2027-1/figures/1

ALPHA CHAIN)HEMOGLOBIN (DEOXY) (BETA CHAIN)HemeProtoporphyrin Ix Containing FeSulfate Ion ... 1DXV: High-resolution X-ray Study Of Deoxy Recombinant Human Hemoglobins Synthesized From Beta-globins Having Mutated Amino ...

https://www.ncbi.nlm.nih.gov/Structure/pdb/1DXV

alpha globin (HBA) gene duplications, next generation sequencing, non-transfusion dependent thalassaemia, Alleles, Gene ... Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next ... Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next ...

https://www.imm.ox.ac.uk/publications/636750

This assay can be used instead of southern blot analysis to determine the total number of intact alpha globin genes. ... 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 ...

https://fantesti.co/product/1342/alpha-globin-gene-deletion-or-duplication

Complete nucleotide sequence of the 5 noncoding region of human alpha-and beta-globin mRNA. scientific article published on ... Complete nucleotide sequence of the 5 noncoding region of human alpha-and beta-globin mRNA (English) ...

https://m.wikidata.org/wiki/Q48417054

Class a: All alpha proteins [46456] (290 folds). *. Fold a.1: Globin-like [46457] (2 superfamilies). core: 6 helices; folded ... neural globin): *Protein Nerve tissue mini-hemoglobin (neural globin) from a.1.1.4: Nerve tissue mini-hemoglobin (neural globin ... Superfamily a.1.1: Globin-like [46458] (5 families) *. Family a.1.1.4: Nerve tissue mini-hemoglobin (neural globin) [74660] (2 ... More info for Protein Nerve tissue mini-hemoglobin (neural globin) from a.1.1.4: Nerve tissue mini-hemoglobin (neural globin). ...

http://scop.berkeley.edu/sunid=74661

Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). ... Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent. ... The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of ... People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms. ...

https://medlineplus.gov/ency/article/000587.htm

... leads to a reduced output of alpha-globin mRNA in proportion to the number of alpha-globin genes lost. In some racial groups ... By analogy, the opposite chromosome in this cross-over should have three alpha-globin genes just as the anti-Lepore chromosome ... We describe here a Welsh family in which three members have five alpha-globn increased alpha mRNA output and it may therefore ... deletion of one of the pair of alpha-globin genes may result from unequal crossing over between the genes on homologous ...

https://www.stemcells.ox.ac.uk/publications/483582

Class a: All alpha proteins [46456] (289 folds). *. Fold a.1: Globin-like [46457] (2 superfamilies). core: 6 helices; folded ... PDB Compounds: (C:) Hemoglobin alpha chains. SCOPe Domain Sequences for d1y8ic_:. Sequence; same for both SEQRES and ATOM ... d1y8ic_ a.1.1.2 (C:) Hemoglobin, alpha-chain {Horse (Equus caballus) [TaxId: 9796]} ...

http://scop.berkeley.edu/sunid=122750&ver=2.06

... alpha alpha alpha anti 3.7) in 4 subjects with heterozygous beta-thalassaemia. Normal alpha-genotype (alpha alpha/alpha alpha) ... alpha 3.7, -alpha 4.2 deletions and for triplication of alpha gene (alpha alpha alpha anti 3.7). RESULTS: The use of normal and ... Rapid detection of alpha + thalassaemia deletion & alpha-globin gene triplication by Gap-PCR in Indian subjects. ... Agarwal S, Sarwai S, Nigam N, Singhal P. Rapid detection of alpha + thalassaemia deletion & alpha-globin gene triplication by ...

https://imsear.searo.who.int/handle/123456789/17315

A novel deletion of the entire alpha-globin gene cluster in a British individual. ... A novel deletion of the entire alpha-globin gene cluster in a British individual. ...

https://www.camsoxford.ox.ac.uk/coi-publications/483652

Thalassemias are characterized by decreased production of globin (alpha and beta) chains. Patients with thalassemia major ( ... Barry E Brenner, MD, PhD, FACEP is a member of the following medical societies: Alpha Omega Alpha, American Academy of ... Sickle cell anemia is caused by a point mutation on the DNA of the beta-globin chain. Valine is substituted for glutamine in ...

http://emedicine.medscape.com/article/780334-overview

When three deleted alpha globin genes are inherited, the result is α-thalassemia (hemoglobin H disease). Affected people have ... Four conditions make up the α-thalassemias, defined by the number of inherited deletions of the four alpha globin genes.10 If ... Thalassemias are a group of disorders characterized by a decrease in either the alpha or beta globin chain production in red ... Roughly half of people with hemoglobin H disease have inherited two deleted alpha globin genes, in combination with a ...

https://www.cdc.gov/immigrantrefugeehealth/guidelines/domestic/general/complete-blood-count.html

Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the ... Hemoglobin is made of two alpha globins and two beta globins. In alpha thalassemia, the body makes less alpha globin than beta ... in the alpha globin gene that causes less alpha globin to be made than typical. The decrease in alpha globin causes an ... that make alpha globin and beta globin from their parents. Alpha globins and beta globins join together to make the hemoglobin ...

https://kidshealth.org/WillisKnighton/en/parents/thalassemias.html

Gamma-globin combines with alpha-globin to form HbF. Normally around birth, gamma-globin expression is turned off and beta- ... Adult hemoglobin contains four protein subunits - two beta-globin and two alpha-globin. Mutations in beta-globin cause sickle ... But humans have another hemoglobin subunit gene (gamma-globin), which is expressed instead of beta-globin during fetal ... "Identification of gamma-globin as a HIF target gene supports the notion that HbF evolved as a protective mechanism against ...

https://www.eurekalert.org/news-releases/967665

Alpha thalassemia is a blood disorder that reduces the production of hemoglobin . Explore symptoms, inheritance, genetics of ... A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. People with alpha thalassemia trait may have ... Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, ... As a result, there are four alleles that produce alpha-globin. The different types of alpha thalassemia result from the loss or ...

https://medlineplus.gov/genetics/condition/alpha-thalassemia/

Helix bundle , Globin fold , Homeodomain fold , Alpha solenoid. All-β folds:. Immunoglobulin fold , Beta barrel , Beta- ... The regular alpha helix and beta sheet structures fold rapidly because they are stabilized by intramolecular hydrogen bonds, as ... Often folding involves first the establishment of regular secondary and supersecondary structures, particularly alpha helices ...

https://www.bionity.com/en/encyclopedia/Protein_folding.html

The genes coding for alpha and beta globin chains are located on chromosome 16 and chromosome 11, respectively. [2] ... Hb A, the major hemoglobin in adults, is composed of four polypeptide chains, two alpha chains, and two beta chains (alpha2 ... The beta-thalassemias are classified as disorders in which no globin chains are produced, or normal globin chains are produced ... Since it results in production of the beta globin chain, most of the synthesized Hb is Hb S. ...

https://www.medscape.com/answers/1225300-192680/what-are-the-sexual-predilections-of-hemoglobinopathy-retinopathy

https://www.limamemorial.org/health-library/HIE%20Multimedia/1/000587

Gene replacement of alpha-globin with beta-globin restores hemoglobin balance in beta-thalassemia-derived hematopoietic stem ... CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells. Nat. Commun. ... CRISPR/Cas9 beta-globin gene targeting in human haematopoietic stem cells. Nature 539, 384-389 (2016). ...

https://www.nature.com/articles/s41467-022-32233-z?utm_campaign=related_content&utm_source=BIOENG&utm_medium=communities&error=cookies_not_supported&code=3f25857b-bbb6-4215-b73a-5c3c476caf31

... produced by the alpha globin genes and the beta globin genes. Both beta globin and alpha globin genes occur in "families" of ... For example, gamma globin, but not eta globin, genes are present in rabbits; goats have eta globin but not gamma globin genes ( ... Examples of unprocessed pseudogenes are present in the alpha-globin and beta-globin gene families (e.g., see Hardison & Miller ... The beta globin gene family is also found in other mammals. Sequences of the human gamma-A globin gene and eta globin ...

https://www.grisda.org/origins-21091

Alpha-globin regulatory element-containing gene protein. *C16orf35. *CGTHBAchromosome 16 open reading frame 35 ...

https://www.novusbio.com/products/nprl3-antibody_nbp1-88447

human alpha-globin and chimpanzee alpha- globin. Term. What is paralog?. Definition. homologs derived through gene duplication ...

https://www.flashcardmachine.com/adeg-l1.html

2009). Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells. Proc. Natl. Acad ... 2010). TRAF6 promotes atypical ubiquitination of mutant DJ-1 and alpha-synuclein and is localized to Lewy bodies in sporadic ...

https://www.frontiersin.org/articles/10.3389/fncel.2015.00174/full

Coinheritance of Triplicated Alpha-Globin Gene and Beta-Thalassemia Mutations in Adulthood: Ten Years of Referrals in Northern ...

https://pubmed.ncbi.nlm.nih.gov/?cmd=search&term=BOUTOU+E%5Bau%5D&dispmax=50

... including upregulation of HbA2 subunit delta and alpha hemoglobin stabilizing protein. An examination of cell populations ... 3468 Single-Cell RNA Sequencing of Sickle Cell Reticulocytes to Identify Beta-Globin Genotypes and Associated Gene Expression ... is a genetic condition typically caused by a single point mutation in both copies of the beta-globin (HBB) gene, resulting in ...

https://ash.confex.com/ash/2022/webprogram/Paper162370.html

1:268-276); alpha-fetoprotein gene control region which is active in liver (Krumlauf et al., 1985, Mol. Cell. Biol. 5:1639-1648 ... 1:161-171); beta-globin gene control region which is active in myeloid cells (Magram et al., 1985, Nature 315:338-340; Kollias ... E.sub.1 or F.sub.2.alpha. to the medium, and, (f) supplementing the medium with interleukin 1 or interleukin 2. Macrophage ... Hammer et al., 1987, Science 235:53-58); alpha-1-antitrypsin gene control region which is active in liver (Kelsey et al., 1987 ...

https://patents.justia.com/patent/5160490

alpha-Thalassemia trait was common (,40% of children demonstrating deletion of 1 [33.1%] or 2 [10.0%] alpha-globin genes) and ... Molecular studies were performed using dried blood spots to determine the presence of sickle cell disease or trait, alpha- ... Agreement between sepsis by Sequential Organ Failure Assessment and eSOFA was good (Cronbachs alpha 0.81). Baseline ...

https://www.cdc.gov/library/sciclips/issues/v11issue10.html

We identify a range of missense mutations in M. fascicularis alpha globin and demonstrate that some of these exhibit a striking HBA1 or HBA2 specificity, a pattern consistent with computational simulations of selection on genes exhibiting copy number variation. (biorxiv.org)
We propose that M. fascicularis accumulated amino acid substitutions in its alpha globin genes under malaria selection, in a process that closely mirrors, but does not entirely converge with, human malaria adaptation. (biorxiv.org)
This assay can be used instead of southern blot analysis to determine the total number of intact alpha globin genes. (fantesti.co)
Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). (medlineplus.gov)
The human genome has two linked alpha-globin genes on chromosome 16. (ox.ac.uk)
Deletion of one or more of them, as occurs in alpha-thalassaemia, leads to a reduced output of alpha-globin mRNA in proportion to the number of alpha-globin genes lost. (ox.ac.uk)
In some racial groups deletion of one of the pair of alpha-globin genes may result from unequal crossing over between the genes on homologous chromosomes by a mechanism resembling that postulated for the formation of the delta beta fusion genes of the Lepore haemoglobins. (ox.ac.uk)
By analogy, the opposite chromosome in this cross-over should have three alpha-globin genes just as the 'anti-Lepore chromosome has three non-alpha chain genes. (ox.ac.uk)
Four conditions make up the α-thalassemias, defined by the number of inherited deletions of the four alpha globin genes. (cdc.gov)
People inherit the instructions (or genes) that make alpha globin and beta globin from their parents. (kidshealth.org)
Every child inherits four genes that make alpha globin: two from each parent. (kidshealth.org)
And very high HbF levels can cure these diseases, despite the defective beta-globin genes being present. (eurekalert.org)
Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. (medlineplus.gov)
Less commonly, changes to the DNA sequence in or near these genes cause alpha thalassemia. (medlineplus.gov)
Both the HBA1 and HBA2 genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin . (medlineplus.gov)
A person is required to inherit a total of four genes to produce alpha globin protein, two of these genes are inherited from the parents. (marketresearchfuture.com)
5 mouse chromosomes include the genes for alpha chain production, with the unabridged alpha3 isoform encoded by the Lama3 gene. (seedandspark.com)
Mechanistically, HIF1α-HIF1β heterodimers bound cognate DNA elements in BGLT3 , a long noncoding RNA gene located 2.7 kb downstream of the tandem γ-globin genes HBG1 and HBG2 . (genengnews.com)
This was followed by the recruitment of transcriptional activators, chromatin opening and increased long-range interactions between the γ-globin genes and their upstream enhancer. (genengnews.com)
A sibling who is fully matched for human leukocyte antigen (HLA) and who is, at most, a carrier for alpha thalassemia (deletion of 2 alpha-globin genes) is the most suitable donor. (medscape.com)
Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. (cdc.gov)

Alpha globin is a building block of hemoglobin. (kidshealth.org)
What Are the Signs & Symptoms of Hemoglobin H Disease or Alpha Thalassemia Major? (kidshealth.org)
People with hemoglobin H and alpha thalassemia major also buildup extra iron in the body, either from the disease itself or from frequent blood transfusions. (kidshealth.org)
Hemoglobin is made of two alpha globins and two beta globins. (kidshealth.org)
Alpha globins and beta globins join together to make the hemoglobin that is inside of red blood cells. (kidshealth.org)
Someone who inherits three alpha thalassemia mutations has hemoglobin H disease . (kidshealth.org)
Adult hemoglobin contains four protein subunits - two beta-globin and two alpha-globin. (eurekalert.org)
But humans have another hemoglobin subunit gene (gamma-globin), which is expressed instead of beta-globin during fetal development. (eurekalert.org)
Normally around birth, gamma-globin expression is turned off and beta-globin is turned on, resulting in a switch from HbF to adult hemoglobin. (eurekalert.org)
It is exciting and gratifying that investigations into hemoglobin and globin gene expression continue to produce new, clinically relevant discoveries. (eurekalert.org)
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin . (medlineplus.gov)
In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. (medlineplus.gov)
The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. (medlineplus.gov)
With a shortage of alpha-globin, cells make little or no normal hemoglobin. (medlineplus.gov)
Sickle cell disease (SCD) is a genetic condition typically caused by a single point mutation in both copies of the beta-globin (HBB) gene, resulting in sickle (S) hemoglobin (HbS) production instead of adult (A) hemoglobin (HbA). (confex.com)
Additionally, differential mRNA expression profiling between AA and SS samples was performed and previously known results from bulk RNAseq studies were produced, including upregulation of HbA2 subunit delta and alpha hemoglobin stabilizing protein. (confex.com)
After infusion, transduced CD34+ HSCs engraft in bone marrow and differentiate to produce RBCs containing biologically active beta A-T87Q -globin (a modified beta-globin protein) that combines with alpha globin to produce functional hemoglobin containing beta A-T87Q -globin (Hb A-T87Q ). (medscape.com)
Hemoglobin carries oxygen in the blood and is produced by two proteins called alpha globin and beta globin. (marketresearchfuture.com)
On the basis of the type, the alpha thalassemia market is segmented into hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome (the more severe form), HbH disease, silent carrier state, and trait. (marketresearchfuture.com)
Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains. (rush.edu)
Niazi GA, Efremov GD, Nikolov N, Hunter E, Huisman TH, Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (ithanet.eu)
With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population). (ithanet.eu)
Dash S, Huisman TH, First observation of hemoglobin J Paris I [alpha-2-12(A10)alanine-aspartic acid beta-2] in the Indian subcontinent. (ithanet.eu)
Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G). (bvsalud.org)
a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/ß 0 thalassemia. (bvsalud.org)
Individuals with mild forms of alpha thalassemia may not require specific treatment except as needed for management of low hemoglobin levels. (medscape.com)
Iron overload is a particular concern in patients with hemoglobin H (HbH) disease or those rare surviving patients with alpha thalassemia major. (medscape.com)
When two mutated beta hematohiston fractional monetary units bind to two wild type alpha sub units, formation of a an deviant hemoglobin called HbS takes topographic point. (freebooksummary.com)

Alpha chains are parts of healthy proteins. (seedandspark.com)
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. (nih.gov)

Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. (medlineplus.gov)

This test can be used to detect the presence or absence of large deletions in the HBA1 or HBA2 gene in patients or their family members suspected of having alpha thalassemia or who are carriers of alpha globin deletions. (fantesti.co)

METHODS: A total of 190 normal subjects (voluntary blood donors), 183 individuals with heterozygous beta-thalassaemia and 19 with homozygous beta-thalassaemia were screened for -alpha 3.7, -alpha 4.2 deletions and for triplication of alpha gene (alpha alpha alpha anti 3.7). (who.int)
Deletions and nondeletion variants in one or more alleles reduce the amount of alpha-globin cells produce. (medlineplus.gov)
Nondeletion variants tend to reduce alpha-globin more than deletions. (medlineplus.gov)
Because nondeletion variants are usually more severe than deletions, nondeletion variants in two of the four alpha-globin alleles can result in HbH disease. (medlineplus.gov)
Novel technique for rapid detection of alpha-globin gene mutations and deletions. (cdc.gov)

INTERPRETATION & CONCLUSION: Gap-PCR is a robust, simple, rapid and non-radioactive technique thus useful in diagnostic laboratories for the detection of common alpha-thalassaemia mutations. (who.int)
Someone who inherits two alpha thalassemia mutations has alpha thalassemia trait . (kidshealth.org)
Someone who inherits four alpha thalassemia mutations has alpha thalassemia major or hydrops fetalis . (kidshealth.org)
Mutations in beta-globin cause sickle cell disease and beta-thalassemia. (eurekalert.org)
Coinheritance of Triplicated Alpha-Globin Gene and Beta-Thalassemia Mutations in Adulthood: Ten Years of Referrals in Northern Greece. (nih.gov)
These thalassemias are caused by mutations that influence the alpha chain. (seedandspark.com)
Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The Istanbul Perspective. (cdc.gov)
The associations of SEA-alpha thalassemia 1, XmnI-Ggamma polymorphism and beta-globin gene mutations with the clinical severity of beta-thalassemia syndrome in northern Thailand. (cdc.gov)
Study on gene mutations of alpha-thalassemia in the South of China]. (cdc.gov)

As a result, there are four alleles that produce alpha-globin. (medlineplus.gov)

Sickle cell anemia is caused by a point mutation on the DNA of the beta-globin chain. (medscape.com)
Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. (kidshealth.org)
In alpha thalassemia, the body makes less alpha globin than beta globin because of the gene mutation. (kidshealth.org)
Someone with alpha thalassemia has a change (or mutation) in the alpha globin gene that causes less alpha globin to be made than typical. (kidshealth.org)
Someone who inherits one alpha thalassemia mutation is an alpha thalassemia carrier . (kidshealth.org)
The thalassamic problem is caused by a mutation of the alpha helix. (seedandspark.com)
The mutation for adult polycystic kidney disease (APKD) has previously been localised to chromosome 16 by the demonstration of genetic linkage with the loci for the alpha-chain of haemoglobin and phosphoglycolate phosphatase. (ox.ac.uk)

What Are the Different Types of Alpha Thalassemia? (kidshealth.org)
The different types of alpha thalassemia result from the loss or alteration of some or all of these alleles. (medlineplus.gov)

Gamma-globin combines with alpha-globin to form HbF. (eurekalert.org)
The St. Jude group discovered that hypoxia inducible factor 1 (HIF1) directly promotes transcription of the gamma-globin gene to enhance HbF production. (eurekalert.org)
The drug, a proline hydroxylase inhibitor, caused HIF1 to accumulate, bind a DNA regulatory region near the gamma globin gene, activating its transcription to produce HbF and inhibit cell 'sickling. (eurekalert.org)
Identification of gamma-globin as a HIF target gene supports the notion that HbF evolved as a protective mechanism against hypoxia," Weiss said. (eurekalert.org)
They include epsilon-globin, gamma-globin, delta-globin and beta-globin. (rush.edu)

A group of Yemeni patients with sickle-cell disease [‏SCD]‏ and normal Hb AA individuals living in Riyadh were studied to determine the incidence of the alpha-gene molecular defect. (who.int)
The finding has implications for treating sickle cell disease and beta-thalassemia, according to the scientists who published their study " Activation of γ-globin expression by hypoxia-inducible factor 1α " in Nature . (genengnews.com)

Myoglobin is a member of the globin superfamily and can be found in skeletal and cardiac muscles. (prospecbio.com)

The argument that the eta globin pseudogene has no function is consistent with most of the data, although lack of function has not been demonstrated. (grisda.org)
The possibility that the eta globin pseudogene provides a binding site for a molecule involved in gene regulation has not been ruled out. (grisda.org)

IMSEAR at SEARO: Rapid detection of alpha + thalassaemia deletion & alpha-globin gene triplication by Gap-PCR in Indian subjects. (who.int)
RESULTS: The use of normal and mutant primers in Gap-PCR revealed eight (4.2%) normal individuals, 22 (12%) individuals with heterozygous beta-thalassaemia and 1 (5.2%) with homozygous beta-thalassaemia as carriers of single- -alpha 3.7 deletion. (who.int)
However, none of the studied samples revealed the presence of -alpha 4.2 deletion. (who.int)
A novel deletion of the entire alpha-globin gene cluster in a British individual. (ox.ac.uk)
In the SCD patients the frequency of single alpha-gene deletion [‏-alpha/alpha alpha]‏ was 0.346, compared to 0.263 in the Hb AA group. (who.int)
A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterised by microcytosis, hypochromia, normal haemoglobin level or mild anaemia, associated with developmental abnormalities. (cdc.gov)

Thalassemias are characterized by decreased production of globin (alpha and beta) chains. (medscape.com)
People create a kidney with three sorts of alpha chains, 2 types of beta chains, as well as three different forms of the b-chain. (seedandspark.com)
These BLs share three various alpha chains and also 2 different beta chains. (seedandspark.com)
Other individuals might have an incredibly unpredictable type of alpha chains. (seedandspark.com)
Alpha chains are harmless as well as are not linked with any kind of substantial health trouble. (seedandspark.com)
These patients have an unstable kind of alpha chains . (seedandspark.com)
The alpha thalassemias are characterized by under-producing one or both of the globin chains. (seedandspark.com)
The alpha thalassemias are defined by an under-production of the globin chains in a person's blood. (seedandspark.com)
The two type of thalassemias are identified according to the sort of under-produced globin chains. (seedandspark.com)
There are two pairs of polypeptide chains I n normal adult haemoglobin (HbA) these are named alpha and beta chains. (wfsahq.org)

Thalassemias are a group of disorders characterized by a decrease in either the alpha or beta globin chain production in red blood cells (RBCs). (cdc.gov)
The decrease in alpha globin causes anemia (not enough RBCs in the body) and can lead to other medical problems. (kidshealth.org)
Around birth, globin expression in human red blood cells (RBCs) shifts from γ-globin to β-globin, which results in fetal haemoglobin (HbF, α 2 γ 2 ) being gradually replaced by adult haemoglobin (HbA, α 2 β 2 ). (genengnews.com)

Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. (ox.ac.uk)
Amplified fragment of 1.8 kb indicated the presence of alpha gene triplication (alpha alpha alpha anti 3.7) in 4 subjects with heterozygous beta-thalassaemia. (who.int)
We describe here a Welsh family in which three members have five alpha-globn increased alpha mRNA output and it may therefore produce the phenotype of mild beta-thalassaemia. (ox.ac.uk)
The alpha thalassaemia-associated beta chain is one of the most typical as well as stable of the 3. (seedandspark.com)
As an example, the high-alpha thalassaemia-alpha chain is related to a high portion of thalassaemia-alpha. (seedandspark.com)
In the blood of bluefish, alpha thalassaemia influences an individual's capacity to take a breath undersea. (seedandspark.com)
The Hb S, alpha- and beta-thalassaemia gene frequency range was 0.005-0.145, 0.01-0.40 and 0.01-0.15 respectively in various areas of Saudi Arabia. (who.int)

Similarly, a retrospective study by Zhang et al indicated that IUT can improve fetal survival in cases of alpha thalassemia major. (medscape.com)

The presence of similar eta globin pseudogenes in humans and chimps has been used as an argument for common ancestry of the two species. (grisda.org)
The alpha chain is likewise described as the b-chain in humans. (seedandspark.com)
Researchers reported the first hints of disease tolerance in humans in 2006, when they found that people who have a type of alpha thalassemia, a blood disorder that typically reduces hemo-globin production, are somehow protected against the severe iron deficiency associated with a malarial infection. (3quarksdaily.com)

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy). (medlineplus.gov)
Hb Bart syndrome, the most severe form of alpha thalassemia, results from the loss or alteration of all four alpha-globin alleles. (medlineplus.gov)
An individual with a serious form of alpha thalassemia will have a shortened life. (seedandspark.com)

Nondeletion variants in one or two alleles cause a range of conditions, from alpha thalassemia silent carrier to HbH disease, depending on the allele involved. (medlineplus.gov)
Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes. (ithanet.eu)
Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. (bvsalud.org)

Depending on the type of alpha thalassemia, anemia can be very mild or very severe. (kidshealth.org)

Two additional forms of alpha thalassemia are related to a reduced amount of alpha-globin. (medlineplus.gov)

There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. (bvsalud.org)

Often folding involves first the establishment of regular secondary and supersecondary structures, particularly alpha helices and beta sheets , and afterwards tertiary structure . (bionity.com)
Myoglobin has 8 alpha helices and a hydrophobic core. (prospecbio.com)

Haplotypes of the Alpha-Globin Gene Regulatory Element in two Brazilian Native Populations. (bvsalud.org)

The alpha thalassemia market is projected to reach USD 6,658.30 Million by 2030 at 10.5% CAGR during the forecast period 2022-2030. (marketresearchfuture.com)

BACKGROUND & OBJECTIVES: Southern blot hybridization is the commonly used method to delineate alpha globin gene defects. (who.int)

Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent. (medlineplus.gov)
Rapid detection of three common deletional alpha thalassemias in Chinese by single-tube multiplex PCR]. (cdc.gov)

People with alpha thalassemia minor may have mild anemia, but usually don't need any medical treatment. (kidshealth.org)
In the past, almost all babies with alpha thalassemia major died before or shortly after birth from complications of extreme anemia. (kidshealth.org)
The imbalance in alpha and beta globin causes anemia and leads to the other medical problems from alpha thalassemia. (kidshealth.org)
This imbalance causes anemia and the other medical problems of alpha thalassemia. (kidshealth.org)
People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. (medlineplus.gov)

A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. (medlineplus.gov)
If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. (medlineplus.gov)

The regular alpha helix and beta sheet structures fold rapidly because they are stabilized by intramolecular hydrogen bonds, as was first characterized by Linus Pauling . (bionity.com)

No evidence was found to suggest heterogeneity of genetic linkage between alpha-globin and the APKD locus in this population. (ox.ac.uk)

In RBC precursors, depletion of the von Hippel-Lindau (VHL) E3 ubiquitin ligase stabilized its ubiquitination target, hypoxia-inducible factor 1α (HIF1α), to induce γ-globin gene transcription. (genengnews.com)

Each person inherits two alpha-globin alleles from each parent. (medlineplus.gov)

Alpha thalassemia trait (also called alpha thalassemia minor ). (kidshealth.org)
A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. (medlineplus.gov)
Surgical care is not needed for silent carriers or persons with alpha thalassemia trait. (medscape.com)

People who are alpha thalassemia carriers do not have any signs or symptoms. (kidshealth.org)

We demonstrate that alpha globin variation in M. fascicularis correlates with the strength of malaria selection. (biorxiv.org)

beta-Globins" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)

In the current study the reaction products of acrylamide and glycidamide with human alpha- and beta-globins or albumin, obtained through in vitro incubation, were studied using Surface Enhanced Laser Desorption Ionization (SELD) with Time of Flight mass spectrometry. (cdc.gov)
The physical order of three alphoid DNA subsets on human chromosome 22 determined by a combination of low- and high-resolution cytological mapping shows the applicability of interphase mapping for ordering alpha satellite DNA repeat arrays. (semanticscholar.org)

HbH disease is usually caused by loss or alteration of three of the four alpha-globin alleles, which sharply reduces the amount of normal alpha-globin produced. (medlineplus.gov)
Alpha Thalassemia Market research report: by type (hb bart syndrome, hbh disease, silent carrier state, and trait. (marketresearchfuture.com)
North America is projected to hold the largest share of the alpha thalassemia market due to the presence of superior research and development base, strong regional economies, and greater emphasis on disease prevention and wellness by the governments. (marketresearchfuture.com)
With the exception of its important role in regulation of viral and cellular promoters, including SV40, and HIV-1 promoters, including fibrinogen and α-globin, LSF is involved in numerous other important biological functions, such as regulation of the cell cycle, cell growth and development, DNA synthesis, cell survival and Alzheimer's disease. (spandidos-publications.com)

Betibeglogene autotemcel is an autologous one-time gene therapy that adds functional copies of a modified beta-globin gene into the patients' hematopoietic stem cells (HSCs) through transduction of autologous CD34+ cells with BB305 lentiviral vector (LVV). (medscape.com)
Globally, thalassemia affects approximately 7% of the population out of which its alpha type affects 3% with many of them being transfusion-dependent patients. (marketresearchfuture.com)
The alpha thalassemia market is likely to be driven by the growing market of bone marrow transplant and blood transfusion therapy, supported by high numbers of transfusion-dependent patients. (marketresearchfuture.com)
No significant effect on neurocognitive outcome and no intellectual impairment were found in the five IUT patients with alpha thalassemia major who were assessed for these. (medscape.com)
Seven polymorphic sites in the beta-globin gene cluster were analyzed on a sample of 96 chromosomes of Venezuelan sickle cell patients from the State of Aragua. (embrapa.br)

A genetic counselor can help families understand the different ways alpha thalassemia runs in families. (kidshealth.org)
Therefore, many laboratories are focused on understanding the perinatal switch from gamma- to beta-globin gene expression and figuring out new ways to reverse it with drugs or genetic therapies. (eurekalert.org)

The diseases are classified according to the kind of under-produced globin chain. (seedandspark.com)
The alpha chain is safe as well as does not cause any symptoms. (seedandspark.com)
Both the alpha chain as well as the beta chain are under-produced in people. (seedandspark.com)
The two versions of the alpha chain vary in their ability to move oxygen. (seedandspark.com)
In alpha thalassemia, the alpha chain is under-produced. (seedandspark.com)
The visibility of alpha1-5 is one of the most prevalent among the four alpha chain variations. (seedandspark.com)
In contrast, the alpha chain is not the only sort of thalassemia. (seedandspark.com)
Detection of three common, deletional alpha-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method. (cdc.gov)

Such changes prevent the production of any normal alpha-globin. (medlineplus.gov)
The alpha thalassemia in bluefish is due to an over-production of alpha tetramers. (seedandspark.com)

The decrease in alpha globin causes an imbalance in the amount of alpha and beta globin. (kidshealth.org)

People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms. (medlineplus.gov)
Alpha thalassemia is an inherited blood disorder in which the body doesn't make as much alpha globin. (kidshealth.org)
After they're born, babies with alpha thalassemia major need frequent blood transfusions to survive. (kidshealth.org)
Alpha thalassemia is a fairly common blood disorder worldwide. (medlineplus.gov)
On the basis of the treatment, the alpha thalassemia market is segmented into blood transfusions, iron chelation, bone marrow, or stem cell transplant, surgery and gene therapy. (marketresearchfuture.com)

Anatomy7

Organisms3

Diseases7

Chemicals and Drugs49

Analytical, Diagnostic and Therapeutic Techniques and Equipment7

Phenomena and Processes25

Information Science3

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

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

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

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

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

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

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

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

Globins

alpha-Globins

Thalassemia

Chromosomes, Human, Pair 16

alpha-Thalassemia

Hylobates

beta-Thalassemia

beta-Globins

Hemoglobins, Abnormal

Reticulocytes

Genes

Base Sequence

DNA Restriction Enzymes

Nucleic Acid Hybridization

Molecular Sequence Data

Heterozygote

DNA, Recombinant

RNA, Messenger

DNA

Multigene Family

alpha 1-Antitrypsin

Transcription, Genetic

Chromosome Mapping

Amino Acid Sequence

Chromosome Deletion

Genetic Linkage

Terminator Regions, Genetic

Promoter Regions, Genetic

Receptors, Adrenergic, alpha

Leukemia, Erythroblastic, Acute

Mutation

Hypoxia-Inducible Factor 1, alpha Subunit

Cloning, Molecular

Hemoglobins

Restriction Mapping

alpha7 Nicotinic Acetylcholine Receptor

Locus Control Region

Gene Expression Regulation

Hemin

Integrin alpha3beta1

Integrin alpha4

Integrin alpha6

Genes, Switch

Integrin alpha5beta1

Erythropoiesis

Hemoglobinopathies

Integrin alpha4beta1

Interleukin-1alpha

Protein Biosynthesis

Erythroid Cells

Integrin alpha2beta1

Receptors, Adrenergic, alpha-1

Integrin alpha5

Integrin alpha1beta1

Erythroblasts

Protein Binding

Erythrocytes

Receptors, Adrenergic, alpha-2

Kinetics

Binding Sites

Integrin alpha6beta1

Transcription Factors

Hemoglobin A

Erythroid Precursor Cells

gamma-Globins

Integrin alpha6beta4

Rabbits

Integrin alpha Chains

Recombinant Proteins

Transfection

Integrins

Integrin alpha1

Alpha Rhythm

Macromolecular Substances

Integrin alpha3

alpha 1-Antitrypsin Deficiency

Heme

Truncated Hemoglobins

Receptors, Nicotinic

Adrenergic alpha-Agonists