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 superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
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.
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.
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
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.
Hydrazine substituted by one methyl group.
Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.
An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
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.
A group of abnormal hemoglobins with similar electrophoretic characteristics. They have faster electrophoretic mobility and different amino acid substitutions in either the alpha or beta chains than normal adult hemoglobin. Some of the variants produce hematologic abnormalities, others result in no clinical disorders.
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta 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.
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.
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
The great peninsula of southwest Asia comprising most of the present countries of the Middle East. It has been known since the first millennium B.C. In early times it was divided into Arabia Petraea, the northwest part, the only part ever conquered, becoming a Roman province; Arabia Deserta, the northern part between Syria and Mesopotamia; and Arabia Felix, the main part of the peninsula but by some geographers restricted to modern Yemen. (From Webster's New Geographical Dictionary, 1988, p63)
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Measurement of hemoglobin concentration in blood.
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.
Organic chemicals that form two or more coordination links with an iron ion. Once coordination has occurred, the complex formed is called a chelate. The iron-binding porphyrin group of hemoglobin is an example of a metal chelate found in biological systems.
An individual having different alleles at one or more loci regarding a specific character.
An individual in which both alleles at a given locus are identical.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.
ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
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 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).
Identification of genetic carriers for a given trait.
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
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.
Natural product isolated from Streptomyces pilosus. It forms iron complexes and is used as a chelating agent, particularly in the mesylate form.
Surgical procedure involving either partial or entire removal of the spleen.
Pyridine derivatives with one or more keto groups on the ring.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
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.
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.
An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.
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.
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 metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
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)
The condition of being heterozygous for hemoglobin S.
The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.
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).
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.
Actual loss of portion of a chromosome.
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 biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A glycoprotein enzyme present in various organs and in many cells. The enzyme catalyzes the hydrolysis of a 5'-ribonucleotide to a ribonucleoside and orthophosphate in the presence of water. It is cation-dependent and exists in a membrane-bound and soluble form. EC 3.1.3.5.
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.
... "alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene". European ... Alpha-thalassemias most commonly result from deletions of any of the four alpha alleles, although some alpha thalassemias have ... 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 ... "Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia". Haematologica. 93 (12): 1868 ...
The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin ... Alpha-thalassemias result in decreased alpha-globin production; therefore, fewer alpha-globin chains are produced, resulting in ... Thalassemias are genetic disorders inherited from a person's parents. There are two main types, alpha thalassemia and beta ... In α-thalassemias, production of the α-globin chain is affected, while in β-thalassemia, production of the β-globin chain is ...
... (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are ... Furthermore, alpha-thalassemia leads to the production of unstable beta globin molecules which cause increased red blood cell ... of the population carry alpha-thalassaemia genes. Beta-thalassemia Delta-thalassemia Hemoglobinopathy Origa, Raffaella; Moi, ... The mechanism sees that α thalassemias results in decreased alpha-globin production, therefore fewer alpha-globin chains are ...
This test is used to investigate deletions and mutations in the alpha- and beta-globin-producing genes. Family studies can be ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ... Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation ... Alpha-thalassemia Anisopoikilocytosis (variance in red blood cell size, usually as a result of beta thalassemia) "Beta ...
... beta thalassemia) and/or in the peripheral blood (alpha thalassemia). Types: Alpha Beta (Major) Beta (Minor) Haemoglobin ... and complex rearrangements and globin gene fusions can also occur. Thalassemias: Thalassemias are quantitative defects that ... zeta globins) and two ε globins (epsilon globins) (ζ2ε2) Hb Gower-2, composed of two alpha globins and two epsilon globins ( ... Throughout life, the synthesis of the alpha-like and the beta-like (also called non-alpha-like) chains is balanced so that ...
2009). "Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells". Proc. Natl. ... The α- and β-like globin genes encode the individual subunits of the protein. The predecessors of these genes arose through ... However, the level of Hb F can be elevated in persons with sickle-cell disease and beta-thalassemia. Variant forms that cause ... "Hemoglobinopathies and Thalassemias". Archived from the original on 2007-12-15. Retrieved 2007-12-26. Reed, Leslie. "Adaptation ...
... protein subunits (genes): *Alpha globin 1. *Beta globin. *Delta globin. Hemoglobin compounds: *Carbaminohemoglobin ( ... "Hemoglobinopathies and Thalassemias". Retrieved 2007-12-26.. *^ Reed, Leslie. "Adaptation found in mouse genes." Omaha World- ... Some mutations in the globin chain are associated with the hemoglobinopathies, such as sickle-cell disease and thalassemia. ... differing by only one amino acid in both the alpha and the beta globin protein chains.[24] These differences grow larger ...
Thalassemias[edit]. Main articles: Thalassemia and Alpha-thalassemia. It has long been known that a kind of anemia, termed ... The HbS gene defect is a mutation of a single nucleotide (A to T) of the β-globin gene replacing the amino acid glutamic acid ... Hemoglobin E is due to a single point mutation in the gene for the beta chain with a glutamate-to-lysine substitution at ... The basis for resistance has been established to be homozygosity of α-Thalassemia gene within the local population.[30] ...
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate ... Alpha globin. *Beta globin Thalassemia occurs when there is a defect in a gene that helps control production of one of these ... Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent. ... There are two main types of thalassemia:. *Alpha thalassemia occurs when a gene or genes related to the alpha globin protein ...
Beta Thalassemias diminished Beta globin chians with unimpaired Alpha chain production. Beta+ thalassemia- reduced Beta chains ... Only SE Asian can produce offspring with severe Alpha thalassemia. 3 genes deleted- Hemoglobin H disease. 4 genes deleted- ... Beta intermedia=milder ariants of 1 severe variants of 2 or 1 combined with alpha thalassemia. Course: growth retardation and ... caused by genetic lesions resulting in decreased synthesis of Alpha or Beta globin chains of HbA resulting in low levels of ...
There are two basic groups of thalassemia disorders: alpha thalassemia and beta thalassemia. ... Thalassemia Definition Thalassemia describes a group of inherited disorders characterized by reduced or absent amounts of ... on these genes control alpha globin production. Alpha thalassemias result from changes (mutations) in these genes. There are ... globin, and beta (or beta-like) globin. All types of thalassemia are caused by changes in either the alpha- or beta-globin gene ...
No similar tetramers of alpha globin subunits form with severe beta-thalassemia. Alpha subunits are quickly destroyed in the ... Changes in the gene for one of the two hemoglobin subunit chains, alpha (α) or beta (β), are called mutations. Often, mutations ... Mutations that form this condition are termed "thalassemias." Equal numbers of hemoglobin alpha and beta chains are essential ... absence of a partner from the beta-globin gene cluster. References[edit]. Berg, Biochemistry (6th Ed) and Campbell Biology (5th ...
... administration of iron in alpha-thalassemia trait may be harmful to the patient. When three deleted alpha globin genes are ... Thalassemias are a group of disorders characterized by a decrease in either the alpha or beta globin chain production in red ... Four conditions make up the α-thalassemias, defined by the number of inherited deletions of the four alpha globin genes.10 If ... People who have inherited two deleted beta globin genes have β-thalassemia major. Typically symptoms manifest at 8 to 10 months ...
Alpha globin. *Beta globin Thalassemia occurs when there is a defect in a gene that helps control production of 1 of these ... There are 2 main types of thalassemia:. *Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are ... Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. ... There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the ...
2 alleles for alpha chain synthesis (4 gene). Hemoglobin H disease. - Hg H is a tetramer of beta chains. Precipitate in RBCs as ... due to a quantitative decrease in the synthesis of one or more globin chains resulting in an unbalanced synthesis of globin ... Thalassemias. Hereditary anemias with diverse clinical expressions, ...
... with β thalassemia in whom the clinical severity of the disease is somewhere between the mild symptoms of the β thalassemia ... trait and the severe manifestations of β thalassemia major. The diagnosis is a clinical one that is based on the patient ... Thalassemia intermedia is a term used to define a group of patients ... Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta- ...
This test is used to investigate deletions and mutations in the alpha- and beta-globin-producing genes. Family studies can be ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ... Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation ... Alpha-thalassemia Anisopoikilocytosis (variance in red blood cell size, usually as a result of beta thalassemia) "Beta ...
New treatments and a potential cure using gene therapy are bringing new hope and health to individuals who suffer from this ... Association of alpha globin gene quadruplication and heterozygous beta thalassemia in patients with thalassemia intermedia. ... Ineffective erythropoiesis and thalassemias. Curr. Opin. Hematol. 16: 187-194.. Ruivard M, Lainé F, Ganz T, et al. 2009. Iron ... Thalassemia trait. Individuals who inherit one mutated β-globin gene and one intact β-globin gene have β-thalassemia trait, or ...
... is a blood disorder in which the body has a problem producing beta globin, a component of hemoglobin, the ... beta globin, along with alpha globin, is one of the proteins that makes up hemoglobin). So, if one or both of the genes that ... While there are many different types of thalassemias, the main two are:. *Alpha thalassemia: when the body has a problem ... About Beta Thalassemia. Beta thalassemia happens when the gene that controls the production of beta globin is defective. Beta ...
Learn about the different types of thalassemia from Cleveland Clinic. Read more about symptoms like bone problems and anemia, ... 2 alpha globin and 2 beta globin chains. There are 2 major types of thalassemia - alpha thalassemia and beta thalassemia - ... Beta Thalassemia. There are normally 2 beta globin genes, one from each parent. Beta thalassemia is a change in 1 or both of ... Who is at risk for thalassemia?. Thalassemias occur more often among certain ethnicities, including people of Italian, Greek, ...
We further show that vorinostat exhibits these synergistic beneficial effects in globin gene expression at nanomolar ... of α-globin in the presence of defective synthesis of β-globin is the primary mechanism for anaemia in β-thalassaemia. Clinical ... have clearly demonstrated that direct suppression of α-globin and induction of γ-globin are effective in reducing the globin ... in addition to its beneficial effects for patients with β-thalassaemia through induction of γ-globin, has the potential to ...
... alpha- and beta-globins). In thalassemia minor or thalassemia trait (heterozygous thalassemia), also called alpha-thalassemia, ... Alpha-thalassemias most commonly affect blacks (25% have at least one gene); beta-thalassemias most commonly affect people of ... Thalassemia People with mild thalassemia (alpha thalassemia trait or beta thalassemia minor) lead normal lives and do not ... Thalassemia. People with mild thalassemia (alpha thalassemia trait or beta thalassemia minor) lead normal lives and do not ...
Thalassemia (say thal-uh-SEE-mee-uh) is an inherited blood disorder that causes your body to make less hemoglobin or abnormal ... You need both alpha- and beta-globin to make hemoglobin. Beta thalassemia occurs when one or both of the two genes that make ... Weatherall DJ (2010). The thalassemias: Disorders of globin synthesis. In K Kaushansky et al., eds., Williams Hematology, 8th ... This is calledalpha thalassemia minor or alpha thalassemia trait.. *If three genes are missing: You will have mild to ...
... and four genes code for alpha globin.. Here are a couple of key points concerning the thalassemias:. * Beta thalassemia minor ( ... If a gene that makes beta globin is affected, then you have beta thalassemia. If a gene that makes alpha globin is affected, ... Two types of beta thalassemia and four types of alpha thalassemia exist because two genes code for beta globin, ... Both beta globin and alpha globin can have their own major and minor problems. Therefore, you can see a beta thalassemia major ...
Alpha globin. *Beta globin Thalassemia occurs when there is a defect in a gene that helps control production of 1 of these ... Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent. ... There are 2 main types of thalassemia:. *Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are ... Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. ...
The thalassemias are inherited disorders of hemoglobin (Hb) synthesis. Their clinical severity widely varies, ranging from ... Alpha and beta globin genes (chromosomes 16 and 11, respectively). * Various mutations in the beta gene that result in beta ... Genotype-phenotype correlations in beta-thalassemias. Blood Rev. 1994 Mar. 8 (1):1-12. [Medline]. ... Alpha chain genes in duplication on chromosome 16 pairing with non-alpha chains to produce various normal hemoglobins. ...
You need both alpha- and beta-globin to make hemoglobin. Beta thalassemia occurs when one or both of the two genes that make ... Weatherall DJ (2010). The thalassemias: Disorders of globin synthesis. In K Kaushansky et al., eds., Williams Hematology, 8th ... This is calledalpha thalassemia minor or alpha thalassemia trait.. *If three genes are missing: You will have mild to ... Alpha thalassemia. This type occurs when one or more of the four alpha-globin genes that make hemoglobin are missing or damaged ...
The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chains of hemoglobin, not ... Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the ... People who have thalassemias have problems with the alpha or beta globin protein chains of hemoglobin. ... People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal. ...
... disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Thalassemia ... beta globin and alpha globin. The HBB gene. provides instructions for making beta globin, while the HBA1 and HBA2 genes provide ... People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may ... Alpha-thalassemia; Alpha-thalassemia-abnormal morphogenesis; Beta-thalassemia; Alpha-thalassemia; Alpha-thalassemia-abnormal ...
The picture shows one example of how beta thalassemia is inherited. The beta globin gene is located on chromosome 11. A child ... The alpha globin genes are located on chromosome 16. A child inherits four alpha globin genes (two from each parent). In this ... Beta Thalassemias. You need two genes (one from each parent) to make enough beta globin protein chains. If one or both of these ... Alpha Thalassemias. You need four genes (two from each parent) to make enough alpha globin protein chains. If one or more of ...
thalassemia major synonyms, thalassemia major pronunciation, thalassemia major translation, English dictionary definition of ... Noun 1. thalassemia major - a fatal form of homozygous thalassemia in which there is no hemoglobin; skeletal deformations; ... The Frequency and Importance of Common [alpha]-globin Gene Deletions Among [beta]-Thalassemia Carriers in an Iranian Population ... Thalassemia syndromes included thalassemia minor ([alpha]-thalassemia heterozygote, [beta]-thalassemia heterozygote, and ...
of CAP+1 (A--,C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north ... Longer titles found: Beta thalassemia (view), Alpha-thalassemia (view), Delta-beta thalassemia (view), Alpha-thalassemia mental ... been a long-time investigator of the genetic basis of rare disorders - thalassemias, color vision deficiencies, hereditary ... identification of beta-globin gene mutation in the patients of beta thalassemia patients and to detection of anthrax toxin gene ...
A person may have alpha or beta thalassemia, and symptoms depend on these types and how many mutated genes a person has ... Thalassemia is an inherited blood disorder. It inhibits the production of hemoglobin and red blood cells. ... Beta Thalassemia. We need two globin genes to make beta-globin chains, one from each parent. If one or both genes are faulty, ... Martin, A., & Thompson, A.A. (2013, December). Thalassemias [Abstract].Pediatric Clinics 60 1383-1391. Retrieved from http:// ...
The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin ... Alpha-thalassemias result in decreased alpha-globin production; therefore, fewer alpha-globin chains are produced, resulting in ... Thalassemias are genetic disorders inherited from a persons parents. There are two main types, alpha thalassemia and beta ... In α-thalassemias, production of the α-globin chain is affected, while in β-thalassemia, production of the β-globin chain is ...
  • Beta thalassemia may be the most best-known type of thalassemia and is also called Cooley's anemia. (encyclopedia.com)
  • A blood test that measures the amounts of different types of hemoglobin, to help find out which type of thalassemia you have. (wellspan.org)
  • When the gene that controls the production of either of these proteins is missing or mutated, it results in that type of thalassemia. (kidshealth.org)
  • For more information on the signs and symptoms by type of thalassemia, please click here . (nih.gov)
  • There are different consequences that may occur depending on the type of thalassemia that is being experienced by people. (proprofs.com)
  • The most familiar type of thalassemia is beta thalassemia. (medicinenet.com)
  • Beta thalassemia intermedia describes the disease in individuals who have moderate anemia that only requires blood transfusions intermittently, if at all. (encyclopedia.com)
  • Three main forms have been described: thalassemia minor, thalassemia intermedia, and thalassemia major which vary from asymptomatic or mild symptoms to severe anemia requiring lifelong transfusions. (wikipedia.org)
  • Those with beta thalassemia intermedia (those who are compound heterozygoutes for the beta thalassemia mutation) usually present later in life with mild to moderate symptoms of anemia. (wikipedia.org)
  • These complications are mostly found in thalassemia major and intermedia patients. (wikipedia.org)
  • Additional symptoms of beta thalassemia major or intermedia include the classic symptoms of moderate to severe anemia including fatigue, growth and developmental delay in childhood, leg ulcers and organ failure. (wikipedia.org)
  • Peripheral blood film in thalassemia intermedia. (medscape.com)
  • [ 1 ] In beta thalassemia intermedia, hemoglobin analysis reveals elevated levels of HbF and HbA2. (medscape.com)
  • The diagnosis of beta thalassemia intermedia does not always require DNA-based genotyping, but such analysis may aid in recognizing complex thalassemias such as delta-beta and gamma-delta-delta thalassemia. (medscape.com)
  • [ 1 ] Genetic analysis may also help to differentiate thalassemia intermedia from thalassemia major. (medscape.com)
  • For example, the presence of IVSI‐5 homozygous with Xmn‐1 is a strong indicator of thalassemia intermedia, but genetic heterogeneity means that this method is not in routine use. (medscape.com)
  • Yathiraj PH, Singh A, Vidyasagar S, Varma M, Mamidipudi V. Excellent and durable response to radiotherapy in a rare case of spinal cord compression due to extra-medullary hematopoiesis in β-thalassemia intermedia: case report and clinicoradiological correlation. (medscape.com)
  • Evaluation of the Clinical and Laboratory Characteristics of Previously Followed-up Thalassemia Intermedia Patients to Provide Them Better Care in the Future. (medscape.com)
  • If you have moderate anemia ( beta thalassemia intermedia ), you may need blood transfusions. (wellspan.org)
  • Beta thalassemia intermedia may also happen when both of the beta globin genes are mutated, but the mutations are less severe than those that typically cause beta thalassemia major. (kidshealth.org)
  • Beta thalassemia major and intermedia can lead to serious complications, especially if untreated. (kidshealth.org)
  • If both genes are altered, you'll have beta thalassemia intermedia or beta thalassemia major (also called Cooley's anemia). (hoacny.com)
  • Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic. (proteopedia.org)
  • G] and beta0-Thalassemia in a Chinese Patient with beta-Thalassemia Intermedia. (amedeo.com)
  • In fact, the thalassemia trait is protective against malaria, a disease caused by blood-borne parasites transmitted through mosquito bites. (encyclopedia.com)
  • Alpha-thalassemia trait is seen with increased frequency in the same ethnic groups. (encyclopedia.com)
  • The frequency of hemoglobin H disease and alpha thalassemia major depends on the type of alpha thalassemia trait. (encyclopedia.com)
  • Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have borderline microcytic, hypochromic anemia and they are usually asymptomatic or have mild symptoms. (wikipedia.org)
  • This is called beta thalassemia minor or beta thalassemia trait . (wellspan.org)
  • Beta thalassemia minor , or beta thalassemia trait , happens when one of the beta globin genes is mutated. (kidshealth.org)
  • People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal. (nih.gov)
  • If one or more of the genes is missing, you'll have alpha thalassemia trait or disease. (hoacny.com)
  • If you're missing two genes, you have alpha thalassemia trait (also called alpha thalassemia minor). (hoacny.com)
  • Each child has a 25 percent chance of inheriting two missing genes and two normal genes (thalassemia trait), three missing genes and one normal gene (hemoglobin H disease), four normal genes (no anemia), or one missing gene and three normal genes (silent carrier). (hoacny.com)
  • Each child has a 25 percent chance of inheriting two normal genes (no anemia), a 50 percent chance of inheriting one altered gene and one normal gene (beta thalassemia trait), or a 25 percent chance of inheriting two altered genes (beta thalassemia major). (hoacny.com)
  • Too much [A.sub.2]--but does the patient really have beta thalassemia trait? (thefreedictionary.com)
  • Study conducted at Fatima Jinnah Medical College Lahore by Majeed17on family members of Thalassemia Major patients showed a frequency of 52% for beta thalassemia trait with female population of 51. (thefreedictionary.com)
  • Those who have minor degrees of thalassemia, similar to those with sickle-cell trait, have some protection against malaria, explaining why they are more common in regions of the world where malaria exists. (wikipedia.org)
  • In the United States, up to 30 percent of African Americans are thought to be carriers for alpha thalassemia traits, meaning that they show no symptoms of the disorder but can pass the trait to their offspring. (healthofchildren.com)
  • The α o -thalassemia trait may have an increased red blood cell (RBC) count, and hemoglobin electrophoresis performed on cord blood at birth would demonstrate 2-20% hemoglobin Barts (gamma 4 ). (oncologynurseadvisor.com)
  • People who have one sickle mutant gene and one normal beta gene have sickle cell trait which is benign. (harvard.edu)
  • This trait is responsible for the sickle cell disease, an autosomic recessive disease caused by a point mutation in the beta chain of hemoglobin. (biomedcentral.com)
  • The presence of thalassemia minor (like sickle cell trait in Africa) afforded protection against malaria, and therefore, this gene thrived. (medicinenet.com)
  • Alpha-Thalassemia trait. (mhmedical.com)
  • Mildly hypochromic and microcytic cells with occasional target cells in a patient with alpha-thalassemia trait (the absence of two alpha-globin genes). (mhmedical.com)
  • Evaluation of Applying a Combination of Red Cell Indexes and Formulas to Differentiate beta-Thalassemia Trait from Iron Deficiency Anemia in the Thai Population. (amedeo.com)
  • The most common causes of microcytosis are iron deficiency anemia and thalassemia trait. (aafp.org)
  • Patients with beta-thalassemia trait usually have elevated levels of hemoglobin A2. (aafp.org)
  • Hemoglobin electrophoresis may be considered earlier in the evaluation of children and young adults with microcytosis, in whom beta-thalassemia trait is more common. (aafp.org)
  • According to a widely accepted theory, most genetic changes - mutations - that cause thalassemia occurred multiple generations ago. (encyclopedia.com)
  • Individuals with beta thalassemia major (those who are homozygous for thalassemia mutations, or inheriting 2 mutations) usually present within the first two years of life with symptomatic severe anemia, poor growth, and skeletal abnormalities. (wikipedia.org)
  • Two major groups of mutations can be distinguished: Nondeletion forms: These defects, in general, involve a single base substitution or small insertions near or upstream of the β globin gene. (wikipedia.org)
  • Most often, mutations occur in the promoter regions preceding the beta-globin genes. (wikipedia.org)
  • Mutations are characterized as (βo) if they prevent any formation of β globin chains, mutations are characterized as (β+) if they allow some β globin chain formation to occur. (wikipedia.org)
  • However, beta thalassemia may still exist when the HbA2 level is normal, with such concentrations dropping into the normal range in the presence of conditions such as concomitant iron deficiency and delta-chain mutations. (medscape.com)
  • The molecular defects causing β-thalassemia are point mutations predominantly found within and around the β-globin gene which result in reduced or absent synthesis of β-globin 10 . (nature.com)
  • The clinical and genetic data accumulated over several decades through naturally occurring human mutations have identified, two independent pathways that could counter-act the globin imbalance in order to ameliorate the severity of β-thalassaemia 12 . (nature.com)
  • There are three types of beta thalassemia, depending upon whether one or two beta globin genes are mutated, and the severity of the mutations. (kidshealth.org)
  • Beta thalassemia major (Cooley's anemia) happens when both of the beta globin genes are mutated (changed) and the mutations are severe. (kidshealth.org)
  • [2] Beta thalassemia is caused by changes ( mutations ) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. (nih.gov)
  • Changes ( mutations ) in the HBB gene lead to reduced levels of beta globin and cause beta thalassemia. (nih.gov)
  • Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell . (nih.gov)
  • The inheritance of alpha thalassemia is complicated by the fact that mutations in two different genes ( HBA1 and HBA2 ) are associated with the condition. (nih.gov)
  • In contrast, beta thalassemia major (Cooley's anemia) is caused by homozygous beta-zero mutations. (thefreedictionary.com)
  • For example, β- thalassemia may be caused by several different mutations in the β-globin gene. (edwardbetts.com)
  • Alpha thalassemias result from changes (mutations) in these genes. (healthofchildren.com)
  • The term hemoglobinopathy refers to a number of inherited disorders that result from mutations in the globin (alpha, beta, or gamma) genes. (clinicaladvisor.com)
  • Beta globin mutations, which cause sickle cell disease and beta-thalassemia typically have no symptoms in the neonatal period because of the high level of fetal hemoglobin (Hb F) and low level of adult Hb at birth. (clinicaladvisor.com)
  • Gamma globin gene mutations may present with symptoms in the neonatal period. (clinicaladvisor.com)
  • Beta globin mutations (sickle cell disease, beta-thalassemias), although present at birth, usually are not symptomatic in the neonatal period. (clinicaladvisor.com)
  • Alpha globin gene mutations or deletions can be detected in the neonatal period because Hb F is composed of alpha and gamma globin chains. (clinicaladvisor.com)
  • Most mutations in alpha-thalassemia are large deletions. (clinicaladvisor.com)
  • Alterations in the gene for one of the two hemoglobin subunit chains, alpha ( a ) or beta ( b ), are called mutations. (harvard.edu)
  • Thalassemias usually result in under production of normal globin proteins, often through mutations in regulatory genes. (dailystrength.org)
  • 1706 (33.8%) subjects harbored thalassemia mutations, including 539 (11.0%) subjects with α-thalassemia, 1140 (23.3%) subjects with β-thalassemia mutations, and 25 (0.51%) subjects with both α- and β-thalassemia mutations. (biomedcentral.com)
  • Seven genotypes of α-thalassemia mutations and 29 genotypes of β-thalassemia mutations were characterized. (biomedcentral.com)
  • SEA /αα (66.05%), −α 3.7 /αα (24.12%), and -α 4.2 /αα (3.71%) accounted for 93.88% of the α-thalassemia mutations. (biomedcentral.com)
  • These studies reported diverse spectrums of globin mutations in different geographical distribution regions with different ethnic populations [ 8 ]. (biomedcentral.com)
  • Herein, we performed a largescale survey to reveal the α- and β-thalassemia mutations in 4889 suspected cases of thalassemia in Hubei province including both Wuhan area and around cities. (biomedcentral.com)
  • Some rare forms of alpha-thalassemia are due to point mutations (non-deletional alpha-thalassemia). (proteopedia.org)
  • Hemoglobinopathies occur when changes (mutations) in the genes that code for the globin chains cause alterations in the proteins. (labcorp.com)
  • The Frequency of HBB Mutations Among beta-Thalassemia Patients in Hamadan Province, Iran. (amedeo.com)
  • The Molecular Spectrum of beta- and alpha-Thalassemia Mutations in Non-Endemic Umbria, Central Italy. (amedeo.com)
  • Beta thalassemia major is also called Cooley anemia. (medlineplus.gov)
  • Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year of life. (medlineplus.gov)
  • Beta thalassemia causes variable anemia that can range from moderate to severe, depending in part on the exact genetic change underlying the disease. (encyclopedia.com)
  • Beta thalassemia major usually causes severe anemia that can occur within months after birth. (encyclopedia.com)
  • Alpha thalassemia major is a very serious disease that results in severe anemia that begins even before birth. (encyclopedia.com)
  • The gene for sickle cell anemia also provides protection against malaria. (wikibooks.org)
  • Therefore, in countries where malaria presented problems, there was an higher than average amount of individuals carrying the sickle cell anemia gene. (wikibooks.org)
  • They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. (wikipedia.org)
  • Study results found in thalassemia-including negative Coombs testing, low haptoglobin, elevated lactate dehydrogenase, and elevated indirect bilirubin-are also derived in nonimmune hemolytic anemia. (medscape.com)
  • If you have one damaged gene, you may have mild anemia and probably won't need treatment. (wellspan.org)
  • People with severe anemia (called beta thalassemia major or Cooley's anemia ) need blood transfusions throughout life. (wellspan.org)
  • With thalassemia, the red blood cells are destroyed at a faster rate, leading to anemia , a condition that can cause fatigue and other complications. (kidshealth.org)
  • Beta thalassemia can cause anemia ranging from mild to severe and is more common in people of Mediterranean, African, and Southeast Asian descent. (kidshealth.org)
  • Thalassemias can cause mild or severe anemia and other complications that can occur over time (such as iron overload). (clevelandclinic.org)
  • The main microcytic anemias on the PANCE are iron-deficiency anemia, anemia of chronic disease, thalassemia, and lead poisoning. (dummies.com)
  • Thalassemia is a type of microcytic anemia that's important to recognize because the test always includes a question or two about it. (dummies.com)
  • Thalassemia is a hereditary condition concerning a problem in the gene that makes one of these two proteins, leading to anemia. (dummies.com)
  • For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. (nih.gov)
  • Intermediate forms of thalassemia can cause mild to moderate anemia and may be associated with other health problems such as slowed growth, delayed puberty, bone problems and/or an enlarged spleen. (nih.gov)
  • In addition to the signs and symptoms seen in intermediate thalassemia, people with severe forms of thalassemia may also experience severe anemia, poor appetite, paleness, dark urine, yellow discoloration of skin ( jaundice ), and enlarged liver or heart. (nih.gov)
  • although some carriers of beta thalassemia develop mild anemia . (nih.gov)
  • People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia. (nih.gov)
  • Doctors might suspect thalassemia if a person has anemia and is a member of an ethnic group that's at increased risk for thalassemias. (nih.gov)
  • Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. (nih.gov)
  • The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chains of hemoglobin, not because of a lack of iron. (nih.gov)
  • This form of thalassemia causes moderate to severe anemia. (hoacny.com)
  • susceptibility to a wide range of diseases (e.g. sickle-cell anemia, β- thalassemia and cystic fibrosis result from SNPs). (edwardbetts.com)
  • Alpha thalassemia major, sometimes called hemoglobin Barts or hydrops fetalis, is a fatal disease that results in severe anemia that begins even before birth. (healthofchildren.com)
  • Alpha-thalassemia should be suspected in a patient with microcytic anemia and erythrocytosis. (oncologynurseadvisor.com)
  • As outlined in the subsequent table, the severity of the anemia depends on the number of mutated or deleted alpha chain genes. (oncologynurseadvisor.com)
  • A heterozygote for α + -thalassemia is asymptomatic with a mild anemia and microcytosis. (oncologynurseadvisor.com)
  • Homozygotes for α + -thalassemia may have more significant anemia with microcytosis. (oncologynurseadvisor.com)
  • Examination of the automated RBC indices can be helpful as an initial screen to determine if the patient has iron deficiency anemia versus beta-thalassemia. (oncologynurseadvisor.com)
  • In spite of a significant increase in the life expectancy of patients with transfusion-dependent anemia following the use of deferoxamine, the main cause of death in thalassemia major patients is still heart disease due to iron deposition. (hindawi.com)
  • Severe anemia and hydrops fetalis (generalized edema, ascites, pleural and pericardial effusions) result when no functional alpha genes are present (typically 4 genes deleted), whereas mild anemia with red cell microcytosis, often in the absence of clinical symptoms, is seen when two or three alpha genes are nonfunctional. (clinicaladvisor.com)
  • severe anemia -recessive gene inherited condition -alpha thalassemia caused by either a genetic mutation or a deletion of certain key genes. (prezi.com)
  • Mutant beta globin causes sickle cell anemia. (genecards.org)
  • Diseases associated with HBB include Beta-Thalassemia and Sickle Cell Anemia . (genecards.org)
  • Reduced synthesis of one of the globin chains causes the formation of abnormal haemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias. (dailystrength.org)
  • The loss of three alpha genes results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia known as hemoglobin H disease. (proteopedia.org)
  • There are two forms of beta thalassemia: thalassemia minor and thalassemia major (also called Cooley's anemia ). (medicinenet.com)
  • They are thalassemia minor and thalassemia major (which is also called Cooley's anemia ). (medicinenet.com)
  • Persons with thalassemia minor have (at most) mild anemia (slight lowering of the hemoglobin level in the blood). (medicinenet.com)
  • Thalassemia major (Cooley's anemia): The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene. (medicinenet.com)
  • Because of this, thalassemia major has been called Mediterranean anemia. (medicinenet.com)
  • Sickle cell anemia is due to an abnormal globin chain in Hb. (scribd.com)
  • Prevalence of Thalassemia Traits and Iron Deficiency Anemia in Sindh, Pakistan. (amedeo.com)
  • The thalassemias are among the most common genetic diseases worldwide. (encyclopedia.com)
  • Thalassemia is diagnostically confirmed via hemoglobin analysis and genetic testing. (medscape.com)
  • Clinical genetic data accumulated over three decades have clearly demonstrated that direct suppression of α-globin and induction of γ-globin are effective in reducing the globin chain imbalance in erythroid cells hence improving the clinical outcome of patients with β-thalassaemia. (nature.com)
  • β-Thalassaemia is one of the most common genetic diseases with over 70,000 new patients diagnosed throughout the world every year 1 . (nature.com)
  • If you, either parent, or any of your siblings have thalassemia or carry a gene for thalassemia and you're thinking about having a child, you may want to talk to a genetic counselor before you get pregnant. (wellspan.org)
  • Yes, genetic testing is available for HBB , HBA1 and HBA2 , the genes known to cause thalassemia. (nih.gov)
  • Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder. (nih.gov)
  • If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and a genetic counselor. (nih.gov)
  • Thalassemias are genetic disorders inherited from a person's parents. (wikipedia.org)
  • Having a single genetic variant for thalassemia may protect against malaria and thus can be an advantage. (wikipedia.org)
  • Scientists are investigating genetic techniques to treat thalassemia. (medicalnewstoday.com)
  • Thalassemia is a genetic disorder. (healthofchildren.com)
  • Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling. (semanticscholar.org)
  • In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. (dailystrength.org)
  • The thalassemias are a group of genetic (inherited) blood disorders that share in common one feature, the defective production of hemoglobin, the protein that enables red blood cells to carry and deliver oxygen. (medicinenet.com)
  • What is the genetic pattern of inheritance of beta thalassemia? (medicinenet.com)
  • The pattern of genetic transmission of beta thalassemia (and sickle cell disease ) was deciphered by James V. Neel when he was at the University of Rochester (and later at the University of Michigan). (medicinenet.com)
  • These genetic changes may result in a reduced production of one of the normal globin chains or in the production of structurally altered globin chains. (labcorp.com)
  • Both α- and β-thalassemias are often inherited in an autosomal recessive manner. (wikipedia.org)
  • Thalassemia is an autosomal recessive inherited disorder of globin chain production which is seen in almost all races [ 1 ]. (hindawi.com)
  • Thalassemia (British spelling, 'thalassaemia') is an inherited autosomal recessive blood disease. (dailystrength.org)
  • Thalassemia is a group of autosomal recessive disorders with varied phenotype, which are caused by human globin gene synthesis disorders [ 1 ], including α-thalassemia and β-thalassemia [ 2 ]. (biomedcentral.com)
  • Deletion forms: Deletions of different sizes involving the β globin gene produce different syndromes such as (βo) or hereditary persistence of fetal hemoglobin syndromes. (wikipedia.org)
  • Loss ( deletion ) of some or all of the HBA1 and/or HBA2 genes results in a shortage of alpha globin, leading to alpha thalassemia. (nih.gov)
  • Deletion of 1 gene on a chromosome is designated α + -thalassemia, whereas deletion of 2 adjacent genes is considered α o -thalassemia. (oncologynurseadvisor.com)
  • alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis. (semanticscholar.org)
  • Coexistence of rare variant HbD Punjab [α2β2(121(Glu→Gln))] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India. (semanticscholar.org)
  • Hemoglobin H forms in people with three-gene alpha thalassemia as well as in people with the combination of two-gene deletion alpha thalassemia and hemoglobin Constant Spring. (harvard.edu)
  • Alpha thalassemia occurs as a result of the deletion of the alpha-globin genes, which leads to a decrease in the synthesis of alpha-globin. (proprofs.com)
  • Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. (abcam.com)
  • These alterations of the synthesis of the globin chains are usually caused by deletion or point mutation on one or more genes. (biomedcentral.com)
  • 9 10 A large increase in the prevalence of all forms of thalassemia has been reported in North America, mostly as a result of immigration from Asian and Middle-Eastern groups in recent decades. (cdc.gov)
  • Determining the prevalence for alpha thalassemia is difficult due to limitations in diagnostic testing. (healthofchildren.com)
  • The prevalence of the β -thalassemia gene in the southern margin of the Caspian Sea is estimated at 10% [ 2 ]. (hindawi.com)
  • The prevalence of α-thalassemia and β-thalassemia in neonates has been investigated by Cai WQ et al. (biomedcentral.com)
  • those who inherit a beta thalassemic mutation but have no hematologic abnormalities nor symptoms. (wikipedia.org)
  • When someone has beta thalassemia, there is a mutation in chromosome 11. (kidshealth.org)
  • An alpha globin gene mutation found (Hb Hasharon) produces an unstable Hb that causes hemolysis in the neonatal period. (clinicaladvisor.com)
  • The disease-producing mutation exists in the beta chain, giving the molecule the structure, a 2 b S 2 . (harvard.edu)
  • Hemoglobin C. Hemoglobin C results from a mutation in the beta globin gene and is the predominant hemoglobin found in people with hemoglobin C disease ( a 2 b C 2 ). (harvard.edu)
  • Hemoglobin E. This variant results from a mutation in the hemoglobin beta chain. (harvard.edu)
  • Hemoglobin Constant Spring is a variant in which a mutation in the alpha globin gene produces an alpha globin chain that is abnormally long. (harvard.edu)
  • Beta thalassemia occurs when there is a mutation of the beta gene, which leads to reduce the production of beta-globin. (proprofs.com)
  • Thalassemia is a condition in which a gene mutation results in reduced production of one of the globin chains. (labcorp.com)
  • A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the beta-Globin Gene Leads to beta-Thalassemia. (amedeo.com)
  • A Novel Mutation of the alpha2-Globin Gene Causing alpha+-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA). (amedeo.com)
  • Thalassemia syndromes. (medlineplus.gov)
  • Giardina PJ, Rivella S. Thalassemia syndromes. (pennmedicine.org)
  • Deferiprone is an iron chelator indicated for patients with transfusional iron overload due to thalassemia syndromes when current chelation therapy is inadequate. (medscape.com)
  • Other hemoglobinopathies can produce clinical disorders, most commonly sickle cell disease and thalassemia syndromes. (clinicaladvisor.com)
  • decreased beta globin synthesis. (brainscape.com)
  • HBB blockage over time leads to decreased beta-chain synthesis. (wikipedia.org)
  • Unbalanced production of α-globin in the presence of defective synthesis of β-globin is the primary mechanism for anaemia in β-thalassaemia. (nature.com)
  • Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell disease (a haemoglobinopathy) is a qualitative problem of synthesis of a non-functioning globin. (dailystrength.org)
  • There are many different mechanisms of defective hemoglobin synthesis and, hence, many types of thalassemia. (medicinenet.com)
  • Beta thalassemias occur most often in people of Mediterranean origin. (medlineplus.gov)
  • The majority of these births occur in the traditional thalassaemia belt which extends from the Mediterranean through the middle east and sub-Saharan Africa to south and southeast Asia 2 . (nature.com)
  • Thalassemia is very common in people of African or Mediterranean descent. (dummies.com)
  • Beta thalassemia occurs in people of a Mediterranean origin. (prezi.com)
  • The thalassemias are the most common monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. (abcam.com)
  • Thalassemias are particularly associated with Arab-Americans, people of Mediterranean origin, and Asians. (dailystrength.org)
  • But for the Greeks, the sea was the Mediterranean, so thalassemia also conveys the idea of the Mediterranean in the blood. (medicinenet.com)
  • Some people with thalassemia are susceptible to health complications that involve the spleen (hypersplenism) and gallstones (due to hyperbilirubinemia from peripheral hemolysis). (wikipedia.org)
  • Medications for the treatment of beta thalassemia are primarily intended to minimize the complications associated with chronic transfusions and the disease process. (medscape.com)
  • Untreated, the complications of thalassemia can lead to organ failure. (medicalnewstoday.com)
  • Therefore, it is important to both identify symptomatic refugees who are homozygous for an abnormal gene and to detect heterozygous carriers, since their offspring may be affected by the disease ( Table 2 ). (cdc.gov)
  • People diagnosed with heterozygous (carrier) β-thalassemia have some protection against coronary heart disease. (wikipedia.org)
  • The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. (proteopedia.org)
  • The person is said to be heterozygous for beta thalassemia. (medicinenet.com)
  • A), Mean Corpuscular Volume, Mean Corpuscular Hemoglobin Cutoff Points in Double Heterozygous Hb E/- -SEA alpha-Thalassemia-1 Carriers are Dependent on Hemoglobin Levels. (amedeo.com)
  • Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent. (medlineplus.gov)
  • Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. (wikipedia.org)
  • There are 2 major types of thalassemia - alpha thalassemia and beta thalassemia - named after defects that can occur in these protein chains. (clevelandclinic.org)
  • When these genes are missing or altered, thalassemias occur. (hoacny.com)
  • Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins. (medlineplus.gov)
  • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). (medlineplus.gov)
  • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. (medlineplus.gov)
  • Thalassemia minor occurs if you receive the faulty gene from only one parent. (medlineplus.gov)
  • Thalassemia occurs when there is a defect in a gene that helps control production of 1 of these proteins. (pennmedicine.org)
  • Thalassemia minor occurs if you receive the faulty gene from only 1 parent. (pennmedicine.org)
  • Beta thalassemia occurs when one or both of the two genes that make beta-globin don't work or only partly work as they should. (wellspan.org)
  • This type occurs when one or more of the four alpha-globin genes that make hemoglobin are missing or damaged. (wellspan.org)
  • The combination of thalidomide and hydroxyurea resulted in hemoglobin levels increasing significantly in transfusion-dependent and non-transfusion dependent patients As of 2015, thalassemia occurs in about 280 million people, with about 439,000 having severe disease. (wikipedia.org)
  • The highest frequency of alpha thalassemia diseases occurs in individuals of Southeast Asian and Chinese descent. (healthofchildren.com)
  • Because alpha globin is also present in the adult form of Hb, these abnormalities will persist after the switch from fetal to adult Hb production occurs. (clinicaladvisor.com)
  • Hemoglobin H occurs only with extreme limitation of alpha chain availability. (harvard.edu)
  • β-Thalassaemia is one of the most common monogenic diseases with no effective cure in the majority of patients. (nature.com)
  • Individuals inherit from each parent a gene controlling alpha globin production. (healthofchildren.com)
  • This is called alpha thalassemia major or hydrops fetalis. (wellspan.org)
  • In hydrops fetalis, four of four α chain genes are mutated and deleted. (oncologynurseadvisor.com)
  • Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. (proteopedia.org)
  • The signs and symptoms vary depending on the severity of the thalassemia. (nih.gov)
  • However, the exact risk and the severity of each child's condition depends on how many gene copies are lost ( deleted ) and which combination of the HBA1 and HBA2 genes are affected. (nih.gov)
  • The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. (wikipedia.org)
  • Treatment depends on the type and severity of thalassemia. (medicalnewstoday.com)
  • Clinical severity of this pathology is influenced by the amount of genes that present changes affecting the structure of the globin chain. (biomedcentral.com)
  • However, there are different types of alpha thalassemia traits within these populations. (encyclopedia.com)
  • This chart describes the different types of alpha thalassemia. (clevelandclinic.org)
  • Thalassemia describes a group of inherited disorders characterized by reduced or absent amounts of hemoglobin, the oxygen-carrying protein inside the red blood cells. (encyclopedia.com)
  • Beta thalassemias (β thalassemias) are a group of inherited blood disorders. (wikipedia.org)
  • Thalassemia describes a group of inherited disorders characterized by reduced or absent amounts of hemoglobin. (healthofchildren.com)
  • Thalassemia refers to a group of inherited disorders in which the amount of hemoglobin produced in the body is greatly reduced. (proprofs.com)
  • The main cardiac abnormalities seen as a result of beta thalassemia and iron overload include left ventricular systolic and diastolic dysfunction, pulmonary hypertension, valvulopathy, arrhythmias, and pericarditis. (wikipedia.org)
  • Symptoms of beta thalassemia include growth problems, bone abnormalities such as osteoporosis , and an enlarged spleen (the organ in the abdomen that plays a part in fighting infection). (clevelandclinic.org)
  • Hemoglobinopathies imply structural abnormalities in the globin proteins themselves [1]. (dailystrength.org)
  • The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). (dailystrength.org)
  • To learn more about these conditions, read the articles on Hemoglobin Abnormalities and Thalassemia. (labcorp.com)
  • Unaffected carriers of all types of thalassemia traits do not experience health problems. (encyclopedia.com)
  • People who are carriers of a thalassemia gene show no thalassemia symptoms and might not know they're carriers. (kidshealth.org)
  • People who are missing one alpha gene (silent carriers) usually don't have any symptoms. (clevelandclinic.org)
  • The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . (nih.gov)
  • If you're expecting a baby and you and your partner are thalassemia carriers, you may want to consider prenatal testing. (nih.gov)
  • People who inherit faulty hemoglobin genes from one parent but normal genes from the other are called carriers. (hoacny.com)
  • Beta globin is made on chromosome 11 (beta globin, along with alpha globin, is one of the proteins that makes up hemoglobin). (kidshealth.org)
  • So, if one or both of the genes that tells chromosome 11 to produce beta globin is altered, less beta globin is made. (kidshealth.org)
  • The beta globin gene is located on chromosome 11. (hoacny.com)
  • The genes for hemoglobin F and hemoglobin A are closely related, existing in the same gene cluster on chromosome 11. (harvard.edu)
  • People who have thalassemia produce fewer healthy hemoglobin proteins, and their bone marrow produces fewer healthy red blood cells. (clevelandclinic.org)
  • Definition: Thalassemia is a blood disorder that is inherited through a defect in a gene that aids in the production of alpha globin or beta globin proteins, found in Hemoglobin. (prezi.com)
  • Treatment for thalassemia major often involves regular blood transfusions and folate supplements. (medlineplus.gov)
  • Regular blood transfusions may be necessary for people with some types of thalassemia. (medicalnewstoday.com)
  • People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms. (medlineplus.gov)
  • Both beta globin and alpha globin can have their own major and minor problems. (dummies.com)
  • Therefore, you can see a beta thalassemia major and minor and an alpha thalassemia major and minor. (dummies.com)
  • If someone has thalassemia minor, the problem gene came from only one parent. (dummies.com)
  • Beta thalassemia minor describes a disease where only one gene of the pair that control beta hemoglobin production is defective. (healthofchildren.com)
  • This is a minor component of the hemoglobin found in red cells after birth and consists of two alpha chains and two delta chains ( a 2 d 2 ). (harvard.edu)
  • Both alpha and beta thalassemia contain thalassemia minor and thalassmia major. (prezi.com)
  • What is the difference between thalassemia minor and major? (medicinenet.com)
  • Thalassemia minor: The individual with thalassemia minor has only one copy of the beta thalassemia gene (together with one perfectly normal beta-chain gene). (medicinenet.com)
  • However, persons with thalassemia minor have a normal blood iron level (unless they are iron deficient for other reasons). (medicinenet.com)
  • No treatment is necessary for thalassemia minor. (medicinenet.com)
  • Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. (medicinenet.com)
  • This can upset the balance of alpha to beta chains, leading to decrease in hemoglobin A, causing abnormal hemoglobin to form (alpha thalassemia) or causing an increase of minor hemoglobin components, such as Hb A2 or Hb F (beta thalassemia). (labcorp.com)
  • Beta thalassemia happens when the gene that controls the production of beta globin is defective. (kidshealth.org)
  • In persons with beta thalassemia, there is reduced or absent production of beta globin chains. (medicinenet.com)
  • In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. (proteopedia.org)
  • There are two forms of beta thalassemia. (medicinenet.com)
  • There are two main types of alpha thalassemia disease: hemoglobin H disease and alpha thalassemia major. (encyclopedia.com)
  • Hemoglobin H disease is in most cases milder than beta thalassemia. (encyclopedia.com)
  • 10 In California, the rate of hemoglobin H disease (or α-thalassemia) in newborns is high for several Asian immigrant populations: 1/2,500 in Chinese and Vietnamese, 1/1,400 in Filipino, 1/800 in Cambodian, and 1/160 in Laotian newborns. (cdc.gov)
  • If you're missing three genes, you likely have hemoglobin H disease (which a blood test can detect). (hoacny.com)
  • Individuals with hemoglobin H disease have inherited one completely defective gene and one gene that has one rather than two functional loci. (healthofchildren.com)
  • Hemoglobin H disease is milder than alpha thalassemia and usually milder than beta thalassemia. (healthofchildren.com)
  • Despite this estimate, the number of babies born with hemoglobin H disease or alpha thalassemia major is very low. (healthofchildren.com)
  • Hemoglobin H disease is usually due to compound heterozygosity for α + -thalassemia and α o -thalassemia. (oncologynurseadvisor.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)
  • 613978 ]. HBH is a form of alpha-thalassemia due to the loss of three alpha genes. (proteopedia.org)
  • People who have thalassemias have problems with the alpha or beta globin protein chains of hemoglobin. (nih.gov)
  • Based on four globin chains of hemoglobin, thalassemia was categorized to the two main groups which are called alpha and beta. (hindawi.com)
  • Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. (medlineplus.gov)
  • Thalassemia (say "thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to make less hemoglobin or abnormal hemoglobin. (wellspan.org)
  • Heart problems: Diseases, such as congestive heart failure and abnormal heart rhythms, may be associated with severe thalassemia. (wikipedia.org)
  • A hemoglobinopathy is an inherited blood disorder in which an individual has an abnormal form of hemoglobin (variant) or decreased production of hemoglobin (thalassemia). (labcorp.com)
  • All types of thalassemias are considered quantitative diseases of hemoglobin, because the quantity of hemoglobin produced is reduced or absent. (encyclopedia.com)
  • Although both classes of thalassemia affect the same protein, the alpha and beta thalassemias are distinct diseases that affect the body in different ways. (encyclopedia.com)
  • The two diseases are quite different from beta thalassemia as well as from one another. (encyclopedia.com)
  • Although both alpha and beta thalassemias affect hemoglobin, these diseases affect the body in distinctly different ways. (healthofchildren.com)
  • Beta thalassemia can be classified based on clinical symptoms. (encyclopedia.com)
  • Modell B, Berdoukas V. The Clinical Approach to Thalassaemia . (medscape.com)
  • This new evidence will be helpful for the interpretation of existing clinical trials and future clinical studies that are directed towards finding a cure for β-thalassaemia using vorinostat. (nature.com)
  • Results from the SPARC (A Randomized Controlled Study to Evaluate Efficacy and Safety of S-303 Treated Red Blood Cells in Subjects with Thalassemia Major Requiring Chronic RBC Transfusion) study provide important clinical data regarding the safety profile of Intercept-treated RBCs in a chronically transfused patient population and support Cerus' Intercept RBC CE mark submission, which is planned for the second half of 2018. (thefreedictionary.com)
  • The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley. (medicinenet.com)
  • 12 -- Narayana Health City treats four Sri Lankan children suffering from thalassemia major , a life-threatening disorder, through unrelated donor bone marrow transplant. (thefreedictionary.com)
  • Bone deformities: Thalassemia can make the bone marrow expand, which causes bones to widen. (wikipedia.org)
  • Possibilities include inserting a normal beta-globin gene into the patient's bone marrow, or using drugs to reactivate the genes that produce fetal hemoglobin. (medicalnewstoday.com)
  • No effective treatment for patients with severe thalassemia has been reported, except bone marrow transplantation, which creates an enormous burden on the family and the society. (biomedcentral.com)
  • The thalassemias are hyperproductive anemias manifested by hemolysis occurring in the bone marrow compartment due to mispairing of beta and globin units. (mhmedical.com)
  • In all types of thalassemia, the quantity of hemoglobin produced is reduced or absent. (healthofchildren.com)
  • Definition: Thalassemia is inherited disorders characterized reduced or absent amounts of hemoglobin, the oxygen-carrying protein inside the red blood cells. (edu.iq)
  • You must inherit the gene defect from both parents to develop thalassemia major. (medlineplus.gov)
  • Untreated, thalassemia major leads to heart failure and liver problems. (medlineplus.gov)
  • Heart failure, growth impairment, diabetes and osteoporosis are life-threatening conditions which can be caused by beta thalassemia major. (wikipedia.org)
  • Babies with beta thalassemia major often seem healthy immediately after birth but start to develop symptoms within the first 2 years of life. (kidshealth.org)
  • If someone has thalassemia major, he or she inherited the problem gene from both parents. (dummies.com)
  • Uquali announced to bear the outlay of a Thalassemia major patient from his personal profit for a whole of his life adding that the provision of the funds to Thalassemia Center Badin for solar lights from the fund generated through street gain campaign was an exemplary service of Sindh Doctors Association of UK. (thefreedictionary.com)
  • Fetuses affected with thalassemia major can be aborted before 18 weeks of gestational age according to 1998 law permission (6). (thefreedictionary.com)
  • asymptomatic and affected can survive without any treatment, thalassemia major i. (thefreedictionary.com)
  • The patients selected for the study were diagnosed as beta thalassemia major according to hemoglobin electrophoresis. (thefreedictionary.com)
  • difficulties for mother to take care of it after birth, such as major thalassemia or bilateral polycystic kidney disease. (edwardbetts.com)
  • Patients with thalassemia major will need between eight and twelve transfusions a year. (medicalnewstoday.com)
  • Individuals with alpha thalassemia major have inherited two completely defective genes, one from each parent. (healthofchildren.com)
  • One study of 500 pregnant women in northern Thailand estimated a frequency of one in 500 pregnancies affected by alpha thalassemia major, for example. (healthofchildren.com)
  • The life of patients with β -thalassemia major depends on blood transfusion. (hindawi.com)
  • The aim of this study was to compare the effects of deferasirox and deferoxamine on renal damage in patients with β -thalassemia major. (hindawi.com)
  • Studies showed that subcutaneous deferoxamine in two-thirds of the patients with thalassemia major did not prevent excess iron depletion in the heart [ 5 ]. (hindawi.com)
  • Heart failure due to myocardial iron overload remains the leading cause of morbidity and mortality in adult thalassemia major (TM) patients. (thalassaemia.org.cy)
  • This causes a striking deficiency in beta chain production and in the production of Hb A. Thalassemia major is a significant illness. (medicinenet.com)
  • At birth the baby with thalassemia major seems entirely normal. (medicinenet.com)
  • HbF has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from the effects of thalassemia major. (medicinenet.com)
  • red blood cells (i.e. erythropoeitin) References First Known Heart Attack Associated With Beta- thalassemia Major Reported. (edu.iq)
  • A Case of Fatal Agranulocytosis That Developed in a Patient with beta-Thalassemia Major Treated with Deferiprone. (amedeo.com)
  • Heterotetramer of two zeta chains and two beta chains in hemoglobin Portland-2, detected in fetuses and neonates with homozygous alpha-thalassemia. (genecards.org)
  • Defects in HBA1/HBA2 are the cause of alpha-thalassemia (A-THAL) [MIM:604131]. (abcam.com)
  • There are two basic groups of thalassemia disorders: alpha thalassemia and beta thalassemia. (encyclopedia.com)
  • Thalassemias are a group of disorders characterized by a decrease in either the alpha or beta globin chain production in red blood cells (RBCs). (cdc.gov)
  • Thalassemias are a group of blood disorders that affect the way the body makes hemoglobin. (kidshealth.org)
  • Thalassemias are blood disorders that affect the body's ability to produce hemoglobin and red blood cells. (clevelandclinic.org)
  • Thalassemia (thal-uh-SEE-me-uh) is a group of disorders that affect the body's ability to produce normal hemoglobin. (clevelandclinic.org)
  • Thalassemias are inherited disorders-that is, they're passed from parents to children through genes. (hoacny.com)
  • For example, people with the blood disorders thalassemia and hypogammaglobulinemia, AIDS, or people receiving chemotherapy. (edwardbetts.com)
  • Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. (wikipedia.org)
  • Detection of alpha-globin gene disorders by a simple PCR methodology. (semanticscholar.org)
  • Thalassemias are inherited blood disorders . (medicinenet.com)
  • Moderate thalassemia may be treated with blood transfusions and folic acid supplements. (wellspan.org)
  • Moderate and severe thalassemias usually are diagnosed in early childhood. (nih.gov)
  • People who have moderate to severe forms of thalassemia have inherited faulty genes from both parents. (hoacny.com)
  • Less severe forms of thalassemia often do not shorten lifespan. (medlineplus.gov)
  • Around 100,000 newborns are delivered each year with severe forms of thalassemia. (medicalnewstoday.com)
  • Usual adult hemoglobin is made up of three components: alpha globin, beta globin, and heme. (encyclopedia.com)
  • Hemoglobin is made up of three components: alpha globin, beta globin, and heme. (healthofchildren.com)
  • All hemoglobin consists of two parts: heme and globin). (medicinenet.com)
  • Hemoglobin consists of one portion called heme, which is the molecule with iron at the center, and another portion made up of four globin (protein) chains. (labcorp.com)
  • Hb is a conjugated protein, containing globin and the heme. (scribd.com)
  • Neonates produce mostly Hb F(composed of two alpha and two gamma globin molecules) rather than the adult form of Hb (composed of two alpha and two beta globin chains). (clinicaladvisor.com)
  • Four protein chains make up hemoglobin - 2 alpha globin and 2 beta globin chains. (clevelandclinic.org)
  • Four genes, 2 from each parent, are required to make alpha globin protein chains. (clevelandclinic.org)
  • Hemoglobin has two kinds of protein chains: alpha globin and beta globin. (hoacny.com)
  • Genes control how the body makes hemoglobin protein chains. (hoacny.com)
  • You need four genes (two from each parent) to make enough alpha globin protein chains. (hoacny.com)
  • You need two genes (one from each parent) to make enough beta globin protein chains. (hoacny.com)
  • Normally, the majority of adult hemoglobin (HbA) is composed of four protein chains, two α and two β-globin chains arranged into a heterotetramer. (wikipedia.org)
  • it contains two alpha and two beta protein chains. (labcorp.com)
  • it has two alpha and two delta protein chains. (labcorp.com)
  • it has two alpha and two gamma protein chains. (labcorp.com)
  • Puberty may also be delayed in children with thalassemia. (wikipedia.org)
  • Globally, most people with thalassemia are born in or are descended from populations in eastern Asia, the Philippines, Indonesia, India, Pakistan and the Middle East. (cdc.gov)
  • People with thalassemia can get too much iron in their bodies (iron overload), either from frequent blood transfusions or from the disease itself. (clevelandclinic.org)
  • Infection: People with thalassemia have an increased risk of infection. (wikipedia.org)
  • This unbalanced production of α- and β-like globin chains leads to precipitation of free α-globin chains in red blood cells (RBC) and their precursors to cause haemolysis and ineffective erythropoiesis which are considered as the primary pathophysiological mechanism for the anaemia in thalassaemia 11 . (nature.com)
  • Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). (nih.gov)
  • There are two main types of thalassemia, alpha thalassemia and beta thalassemia , which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). (nih.gov)
  • People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. (nih.gov)
  • Thalassemia is often accompanied by the destruction of a large number of red blood cells and the task of removing these cells causes the spleen to enlarge. (wikipedia.org)
  • Thalassemia is an inherited blood disorder that affects the body's ability to produce hemoglobin and red blood cells. (medicalnewstoday.com)
  • A person with thalassemia will have too few red blood cells and too little hemoglobin, and the red blood cells may be too small. (medicalnewstoday.com)
  • Microcytic red blood cells, most of which are target forms, consistent with beta-thalassemia. (mhmedical.com)