KEGG DISEASE: Thalassemia

KEGG

DISEASE: Thalassemia

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 in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A50  Thalassaemias
    H00228  Thalassemia

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

Luspatercept [DR:D11701]
Betibeglogene autotemcel [DR:D11930]
Thiotepa [DR:D00583]

Other DBs

ICD-11:

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

Reference

PMID:15008259 (HBA1)

Authors

Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC

Title

A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.

Journal

Hemoglobin 28:1-5 (2004)
DOI:10.1081/hem-120028881

Reference

PMID:11791872 (HBA1)

Authors

Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH

Title

Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.

Journal

Hemoglobin 25:391-6 (2001)
DOI:10.1081/hem-100107876

Reference

PMID:8756078 (HBA2)

Authors

Ayala S, Colomer D, Aymerich M, Pujades A, Vives-Corrons JL

Title

Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population.

Journal

Am J Hematol 52:144-9 (1996)
DOI:10.1002/(SICI)1096-8652(199607)52:3<144::AID-AJH3>3.0.CO;2-T

Reference

PMID:15977037 (HBB)

Authors

Ropero P, Villegas A, Martinez M, Ataulfo Gonzalez Fernandez F, Benavente C, Mateo M

Title

A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.

Journal

Ann Hematol 84:584-7 (2005)
DOI:10.1007/s00277-004-0992-2

LinkDB

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