*Iron overload

... such as beta-thalassaemia major, sickle cell anaemia, and Diamond-Blackfan anaemia) or by older patients with severe acquired ... MRI R2 and R2* mapping accurately estimates hepatic iron concentration in transfusion-dependent thalassemia and sickle cell ... Two newer iron chelating drugs that are licensed for use in patients receiving regular blood transfusions to treat thalassaemia ... Diabetes due to selective iron deposition in pancreatic islet beta cells leading to functional failure and cell death. ...

*HBE1

1988). "Beta-thalassemia due to a T----A mutation within the ATA box". Biochem. Biophys. Res. Commun. 153 (2): 741-7. doi: ... Chang JC, Kan YW (1979). "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886-9. doi: ... The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma- ... Tuan D, Solomon W, Li Q, London IM (1985). "The "beta-like-globin" gene domain in human erythroid cells". Proc. Natl. Acad. Sci ...

*Fetal hemoglobin

In humans, the gamma subunit is encoded on chromosome 11, as is the beta subunit. There are two similar copies of the gamma ... except in a few thalassemia cases in which there may be a delay in cessation of HbF production until 3-5 years of age. In ... Whereas adult hemoglobin is composed of two α (alpha) and two β (beta) subunits, fetal hemoglobin is composed of two α subunits ... The higher oxygen affinity required for fetal hemoglobin is achieved by the protein subunit γ (gamma), instead of the β (beta) ...

*Hemosiderosis

... such as sickle cell anemia and thalassemia, though beta thalassemia minor has been associated with hemosiderin deposits in the ... Selective iron deposition in the beta cells of pancreatic islets leads to diabetes due to distribution of transferrin receptor ... "Beta-globin mutations are associated with parenchymal siderosis and fibrosis in patients with non-alcoholic fatty liver disease ... on the beta cells of islets and in the skin leads to hyperpigmentation. Hemosiderin deposition in the brain is seen after ...

*Beta thalassemia

Alpha-thalassemia Advani, Pooja. "Beta Thalassemia Treatment & Management". Medscape. Retrieved 4 April 2017. "Beta thalassemia ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ... Even if a child does not have beta thalassemia major, they can still be a carrier resulting in future offspring having beta ... These complications are mostly found in thalassemia major and intermedia patients. Individuals with beta thalassemia major ...

*HBG1

Chang JC, Kan YW (1979). "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886-9. doi: ... Also, in cases of beta-thalassemia and related conditions, gamma chain production may be maintained, possibly as a mechanism to ... 1993). "Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia". Hemoglobin. 16 (6): 503-9. doi: ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. GRCh38: Ensembl ...

*Management of thalassemia

Dietary indicaxanthin has been shown to have protective effects on RBCs in people with beta thalassemia. It has a structure ... 2006). "A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia". Blood. ... Mild thalassemia : patients with thalassemia traits do not require medical or follow-up care after the initial diagnosis is ... 2006). "Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic ...

*Delta-beta thalassemia

... is considered rare. In terms of the pathophysiology of delta-beta thalassemia, one finds delta and beta ... as well Alpha thalassemia Beta thalassemia "Delta-beta-thalassemia". Orphanet. Orphanet. Retrieved 16 September 2016. "RBC ... In beta thalassemia, an increase in hemoglobin A2 results. However, the co-existence of a delta-beta thalassemia mutation will ... thereby obscuring the diagnosis of beta thalassemia trait The diagnosis of delta-beta thalassemia is done via hypochromic ...

*Sickle cell-beta thalassemia

... (Sickle cell-β thalassemia) is an inherited blood disorder. The disease may range in severity from ... disease Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia ... "Newborn Screening Program - Sickle Cell Beta Thalassemia Disease". www.idph.state.il.us. Retrieved 2015-06-18. Ashley-Koch, A; ... "Newborn Screening Program - Sickle Cell Beta Thalassemia Disease". www.idph.state.il.us. Retrieved 2015-06-18. Ashley-Koch, A; ...

*HBB

Total or partial absence of HBB causes a genetic disease called beta thalassemia. Total loss called, thalassemia major or beta- ... Beta globin (also referred to as HBB, β-globin, haemoglobin beta, hemoglobin beta, or preferably haemoglobin subunit beta) is a ... "Alpha and beta thalassemia". American Family Physician. 80 (4): 339-44. PMID 19678601. "Beta thalassemia". Genetics Home ... Frischknecht H, Dutly F (2007). "A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia". ...

*Anisopoikilocytosis

... beta thalassemia major, a form of microcytic anemia. In β thalassemia major the beta hemoglobin chain is completely absent, ... Galanello, Renzo; Origa, Raffaella (2010-05-21). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750 ...

*List of hematologic conditions

"Beta thalassemia". Genetics Home Reference. U.S. National Library of Medicine, NIH. March 13, 2011. Retrieved 21 March 2011. ... Hemoglobinopathies and Thalassemias "Sickle Cell Trait and Other Hemoglobinopathies and Diabetes: Important Information for ... Rivella, S. (May 2009). "Ineffective erythropoiesis and thalassemias". Curr. Opin. Hematol. National Center for Biotechnology ... "Alpha thalassemia". Genetics Home Reference. U.S. National Library of Medicine. February 27, 2011. Retrieved 3 March 2011. " ...

*Gideon Koren

Rund D, Rachmilewitz E (September 2005). "Beta-thalassemia". The New England Journal of Medicine. 353 (11): 1135-46. doi: ... August 1998). "Long-term safety and effectiveness of iron-chelation therapy with deferiprone for thalassemia major". The New ... progressive hepatic fibrosis during long-term therapy with deferiprone in subjects with transfusion-dependent beta-thalassemia ... double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major ...

*LentiGlobin BB305

Beta thalassemia is caused by mutations to or deletions of the HBB gene leading to reduced or absent synthesis of the beta ... LentiGlobin BB305 is an experimental treatment for beta thalassemia, a rare and potentially debilitating blood disorder. It is ... In early clinical trials several patients with beta thalassemia, who usually require frequent blood transfusions to treat their ... "Beta-thalassemia". Genetics in Medicine. 12: 61-76. doi:10.1097/GIM.0b013e3181cd68ed. Retrieved 14 February 2015. Negre O, et ...

*JRI-Poland

Diamond was researching the Beta Thalassemia genetic trait, which he suspected was present in Ashkenazi Jewish families in his ... Diamond, Stanley M. (3 August 2004). "About the beta-thalassemia project". DiamondGen. Retrieved 14 March 2016. Burstein, ...

*List of OMIM disorder codes

HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, ... alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I; 187600; FGFR3 Thiamine-responsive ... CYCS Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1 Thrombocytopenia, congenital amegakaryocytic; 604498; MPL ... ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia mental retardation syndrome; 301040; ...

*Compound heterozygosity

These disorders include sickle cell-beta thalassemia. In the case of sickle cell anemia, an individual with one allele for ... 1988). "Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United ... Ohno, Kousaku & Suzuki, Kunihiko (1988-12-05). "Multiple Abnormal beta-Hexosaminidase alpha-Chain mRNAs in a Compound- ... sickle cell disorders result from inheritance of the sickle cell gene in a compound heterozygous manner with other mutant beta ...

*Thalassemia

There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and beta thalassemia depends on how ... almost all patients with beta-thalassemia accumulate potentially fatal iron levels. Infection: People with thalassemia have an ... Beta thalassemias are due to mutations in the HBB gene on chromosome 11, also inherited in an autosomal, recessive fashion. The ... Just as with beta thalassemia, mutations that affect the ability of this gene to produce delta chains can occur.[citation ...

*Hemoglobin variants

Hb H usually occurs in some alpha thalassemia and is composed of four beta globin (protein) chains. This variant is usually ... Another way that beta genes can be inherited is in a homozygous fashion. This means that the person has two abnormal beta genes ... The levels can be normal to increased in beta thalassemia. Hemoglobin F frequently increases in individuals with sickle cell ... This means that the person has one normal beta gene and one abnormal beta gene. This person is considered to be a carrier of ...

*Nunera

"Rheological properties of erythrocytes in heterozygous and homozygous beta thalassaemia". British Journal of Haematology. 43 (3 ...

*List of disorders included in newborn screening programs

1 in 25,000 Hb S/Beta-Thalassemia (Hb S/Th) > 1 in 50,000 Inborn errors of amino acid metabolism Tyrosinemia I (TYR I) < 1 in ... 1 in 100,000 Beta-ketothiolase deficiency (BKT) < 1 in 100,000 Propionic acidemia (PROP) > 1 in 75,000 Multiple-CoA carboxylase ... Beta-methyl crotonyl carboxylase deficiency Adenosylcobalamin synthesis defects Inborn errors of fatty acid metabolism Medium/ ...

*Hemoglobin E

"Hb E/beta-thalassaemia: a common & clinically diverse disorder". Indian J. Med. Res. 134: 522-31. PMC 3237252 . PMID 22089616. ... There is a variety of genotypes depending on the interaction of HbE and α-thalassemia. The presence of the α-thalassemia ... Hemoglobin E/β-thalassemia is a severe disease, and it still has no universal cure. It affects more than a million people in ... The reduced synthesis of β chain may cause β-thalassemia. Also, this hemoglobin variant has a weak union between α- and β- ...

*Health in the United Arab Emirates

Beta-thalassemia constitutes a major public health problem in the UAE. During 1989-2004, more than 850 patients have been ... in 2014 16,247 people were tested, 342 were Beta-thalassaemia carriers, 8 had sickle-cell anaemia, 205 were sickle-cell anaemia ... Surveys have shown that the UAE exhibits one of the highest carrier frequencies of β-thalassemia in the Persian Gulf region ... thalassaemia, and syphilis. The Health Authority - Abu Dhabi introduced premarital screening and counselling in 2011. 56,226 ...

*Hemoglobin, alpha 1

2006). "Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers". Med. J. Malaysia. 61 (2): 217-20. PMID ... Ye BC, Zhang Z, Lei Z (2007). "Molecular analysis of alpha/beta-thalassemia in a southern Chinese population". Genet. Test. 11 ... GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia OMIM etries on Alpha-Thalassemia. ... Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some ...

*TATA box

... "beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site". Proceedings of the ... "Beta-thalassemia due to a T----A mutation within the ATA box". Biochemical and Biophysical Research Communications. 153 (2): ... Zienolddiny S, Ryberg D, Maggini V, Skaug V, Canzian F, Haugen A (April 2004). "Polymorphisms of the interleukin-1 beta gene ... Some diseases that can be caused due to this insufficiency by specific gene transcription are: Thalassemia, lung cancer, ...

*Promoter (genetics)

Examples include: Asthma Beta thalassemia Rubinstein-Taybi syndrome Some promoters are called constitutive as they are active ... Kulozik, A. B. K.; Bellan-Koch, A.; Bail, S.; Kohne, E.; Kleihauer, E. (May 1991). "Thalassemia intermedia: moderate reduction ... of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element". Blood. 77 (9): 2054- ...

*Genetic studies on Arabs

Tadmouri, GO; Gulen, RI (November 2003). "Deniz: the electronic database for beta-thalassemia mutations in the Arab world". ... Some of the diseases are beta-thalassemia mutations, sickle-cell disease, congenital heart-disease, glucose-6-phosphate ... beta Thalassemia in all countries, g6dh deficiency all countries. Most of the genetic markers of Arabs genetic diseases are ... Some 906 pathologies are endemic to the Arab states, including thalassaemia, Tourette's syndrome, Wilson's disease, Charcot- ...