| H00228 | |
| H number | H00228 |
| Name | Thalassemia |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Luspatercept [DR:D11701] Betibeglogene autotemcel [DR:D11930] Thiotepa [DR:D00583] |
| Comment | - |
| 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 | PMID:18406222 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 PMID:16162884 AUTHORS Rund D, Rachmilewitz E TITLE Beta-thalassemia. JOURNAL N Engl J Med 353:1135-46 (2005) DOI:10.1056/NEJMra050436 PMID:15660507 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 PMID:15561674 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 PMID:20439494 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 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 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 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 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 |