Alpha-thalassemia

The genetic defects known as thalassemias result from the partial or total absence of one or more a or P chains of hemoglobin. Over 750 different mutations have been identified, but only three are common. Either the a chain (alpha thalassemias) or P chain (beta thalassemias) can be affected. A superscript indicates whether a subunit is completely absent (a or p ) or whether its synthesis is reduced (a or P ). Apart from marrow transplantation, treatment is symptomatic. 

Gibbons, R.J., Picketts, D.J., Villard, L., and Higgs, D.R. (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80, 837-845. 

ATRX Alpha Thalassemia/mental retardation syndrome X-linked RAD54 (S. cerevisiae) homolog... 

A4. Aksoy, M., The first observation of homozygous hemoglobin S-alpha thalassemia and two types of sickle cell thalassemia disease (a) Sickle cell-alpha thalassemia disease, (b) sickle cell-beta thalassemia disease. Blood 22, 757-769 (1963). 

Berfstrome Jones AC, Doon A. Evaluation of a single-tube multiplex polymerase chain reaction screen for detection of common alpha thalassemia genotypes in a clinical laboratory Am J Clin Path 2002 118 18-24. 

Chur DH, Waye JS. Hydrops fetalis caused by alpha thalassemia an emerging health care problem. Blood 1998 91 2213-22. 

Lafferty JD, Crowther MD, Waye JS, Chui DHK. A reliable screening test to identify adult carriers of the (- ) alpha°-thalassemia deletion A J Clin Path 2000 114 927-31. 

Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1,000 cord bloods studied in Bangkok. 

Alpha-Thalassemia A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted, [nih]... 

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