Rarely, MDS is found in association with acquired a-thalas-semia (ATMDS). This disorder has a strong male preponderance and has the features of MDS in addition to a-thalassemia, such as microcytic red cells and HbH on Hb electrophoresis. Previous investigations had failed to find any structural abnormality in the a-globin genes themselves. The mutation responsible for ATMDS has now been found to occur in the ATRX gene. The initial clue as to the cause of ATMDS was the finding of markedly diminished expression levels of ATRX in neutrophils by microarray experiments. Subsequently, mutations of ATRX were detected in neutrophil DNA of ATMDS patients.
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