Thalassemia

Definition:

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.

References:

[1]. Alan R Cohen, et al. Thalassemia. Hematology Am Soc Hematol Educ Program. 2004;14-34. [Content Brief]

[2]. Annarita Miccio, et al. Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes. Mol Cell Biol. 2010 Jul;30(14):3460-70. [Content Brief]

[3]. Cornelis L Harteveld, et al. 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. Hemoglobin. 2004 Feb;28(1):1-5. [Content Brief]

[4]. Deborah Rund, et al. Beta-thalassemia. N Engl J Med. 2005 Sep 15;353(11):1135-46. [Content Brief]

[5]. J S Waye, et al. Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene. Hemoglobin. 2001 Nov;25(4):391-6. [Content Brief]

[6]. Paloma Ropero, et al. A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia. Ann Hematol. 2005 Sep;84(9):584-7. [Content Brief]

[7]. Stanley L Schrier, et al. New strategies in the treatment of the thalassemias. Annu Rev Med. 2005;56:157-71. [Content Brief]

[8]. W C Leung, et al. Alpha-thalassaemia. Semin Fetal Neonatal Med. 2008 Aug;13(4):215-22. [Content Brief]

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