The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).

Journal article

Alpha thalassaemia myelodysplastic syndrome (ATMDS) is an unusual complication of chronic myeloid malignancy that is associated with a striking red cell phenotype. It represents an acquired form of alpha-thalassaemia that most commonly arises in the context of myelodysplasia. It has recently been shown that this condition occurs in association with somatic mutations of a known X-encoded trans-acting regulator of alpha globin gene (HBA) expression, ATRX. There is an unexplained, strong male pr...

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Authors: Haas, P; Roy, N; Gibbons, R; Deville, M; Fisher, C

• Publication status: Published
• Journal: British journal of haematology
• Volume: 144
• Issue: 4
• Pages: 538-545
• Publication date: 2009-02-01
• DOI: 10.1111/j.1365-2141.2008.07505.x
• EISSN: 1365-2141
• ISSN: 0007-1048
• Language: English
• Keywords: Epigenesis, Genetic; X Chromosome Inactivation; Aged; Humans; Sex Distribution; alpha-Thalassemia; DNA Helicases; Cross-Sectional Studies; Mutation; Middle Aged; DNA Mutational Analysis; Nuclear Proteins; Male; Female; Myelodysplastic Syndromes; DNA Methylation