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Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease

23 Sept 2010

Abstract excerpt

We describe a severe case of hemoglobin H disease due to deletions of variable extent of both upstream alpha-globin gene regulatory regions, with all 4 downstream alpha-genes intact. The patient lacks MCS-R2 in both chromosomes, and MCS-R1, and MCS-R3 in one chromosome.\nThis report adds significant information on the control of the alpha-gene cluster, proving that the complete loss of the major regulatory...

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PMID: 20864588
DOI: 10.1182/blood-2010-04-281345

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