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

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 sh...

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Main Authors: Haas, P, Roy, N, Gibbons, R, Deville, M, Fisher, C, Schwabe, M, Bissé, E, van Dorsselaer, A, Higgs, D, Lübbert, M
Format: Journal article
Jezik:English
Izdano: 2009
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author Haas, P
Roy, N
Gibbons, R
Deville, M
Fisher, C
Schwabe, M
Bissé, E
van Dorsselaer, A
Higgs, D
Lübbert, M
author_facet Haas, P
Roy, N
Gibbons, R
Deville, M
Fisher, C
Schwabe, M
Bissé, E
van Dorsselaer, A
Higgs, D
Lübbert, M
author_sort Haas, P
collection OXFORD
description 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 preponderance of individuals with the ATMDS phenotype with a >5:1 male-female ratio and furthermore, all the somatic ATRX mutations described to date have been in males. Here we report the identification, in a single centre, of two females with ATMDS and mutations in the ATRX gene, proving that ATMDS associated with such mutations may occur, albeit rarely, in females. It seemed possible that females might be less likely to develop ATMDS if the inactivated copy of the ATRX gene (ATRX) became progressively re-activated throughout life. This study ruled out this hypothesis by investigating the pattern of ATRX inactivation in a cross-sectional analysis of normal females at ages ranging from newborn to 90 years.
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spelling oxford-uuid:f0a6323c-05de-4145-b103-16f4be03a5e92022-03-27T11:49:47ZThe role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:f0a6323c-05de-4145-b103-16f4be03a5e9EnglishSymplectic Elements at Oxford2009Haas, PRoy, NGibbons, RDeville, MFisher, CSchwabe, MBissé, Evan Dorsselaer, AHiggs, DLübbert, MAlpha 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 preponderance of individuals with the ATMDS phenotype with a >5:1 male-female ratio and furthermore, all the somatic ATRX mutations described to date have been in males. Here we report the identification, in a single centre, of two females with ATMDS and mutations in the ATRX gene, proving that ATMDS associated with such mutations may occur, albeit rarely, in females. It seemed possible that females might be less likely to develop ATMDS if the inactivated copy of the ATRX gene (ATRX) became progressively re-activated throughout life. This study ruled out this hypothesis by investigating the pattern of ATRX inactivation in a cross-sectional analysis of normal females at ages ranging from newborn to 90 years.
spellingShingle Haas, P
Roy, N
Gibbons, R
Deville, M
Fisher, C
Schwabe, M
Bissé, E
van Dorsselaer, A
Higgs, D
Lübbert, M
The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
title The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
title_full The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
title_fullStr The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
title_full_unstemmed The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
title_short The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
title_sort role of x inactivation in the gender bias of patients with acquired alpha thalassaemia and myelodysplastic syndrome atmds
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