KEGG   DISEASE: ThalassemiaHelp
Entry
H00228                      Disease                                

Name
Thalassemia
  Subgroup
Alpha thalassemia
Beta thalassemia
Alpha thalassemia, X-linked (ATRX) [DS:H01752]
Description
Thalassemia is the most common hereditary blood disease caused by mutation of genes encoding hemoglobin alpha and beta chains. The anemia that is associated with thalassemia is caused by ineffective erythropoiesis which results from apoptosis of erythroid precursors or hemolysis due to the chain imbalances.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00228  Thalassemia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Acquired haemolytic anaemia
     3A50  Thalassaemias
      H00228  Thalassemia
BRITE hierarchy
Gene
(Alpha) HBA1 [HSA:3039] [KO:K13822]
(Alpha) HBA2 [HSA:3040] [KO:K13822]
(Beta) HBB [HSA:3043] [KO:K13823]
(Beta) HBG1 [HSA:3047] [KO:K13824]
(Beta) HBG2 [HSA:3048] [KO:K13824]
(ATRX) ATRX [HSA:546] [KO:K10779]
Drug
Thiotepa [DR:D00583]
Other DBs
ICD-11: 3A50
ICD-10: D56.0 D56.1 D56.2 D56.4
OMIM: 141750 604131 603902 141800 141900 300448 301040 309580 141749
Reference
  Authors
Leung WC, Leung KY, Lau ET, Tang MH, Chan V
  Title
Alpha-thalassaemia.
  Journal
Semin Fetal Neonatal Med 13:215-22 (2008)
DOI:10.1016/j.siny.2008.02.006
Reference
  Authors
Rund D, Rachmilewitz E
  Title
Beta-thalassemia.
  Journal
N Engl J Med 353:1135-46 (2005)
DOI:10.1056/NEJMra050436
Reference
  Authors
Schrier SL, Angelucci E
  Title
New strategies in the treatment of the thalassemias.
  Journal
Annu Rev Med 56:157-71 (2005)
DOI:10.1146/annurev.med.56.082103.104718
Reference
  Authors
Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E
  Title
Thalassemia.
  Journal
Hematology Am Soc Hematol Educ Program 14-34 (2004)
DOI:10.1182/asheducation-2004.1.14
Reference
  Authors
Miccio A, Blobel GA
  Title
Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.
  Journal
Mol Cell Biol 30:3460-70 (2010)
DOI:10.1128/MCB.00001-10

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