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. This report adds significant information on the control of the alpha-gene cluster, proving that the complete loss of the major regulatory MCS-R2 element severely downregulates the expression of the alpha-globin genes, but is not associated with a complete absence of alpha-chain production.

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

PAGLIETTI, MARIA ELISABETTA;
2010-01-01

Abstract

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. This report adds significant information on the control of the alpha-gene cluster, proving that the complete loss of the major regulatory MCS-R2 element severely downregulates the expression of the alpha-globin genes, but is not associated with a complete absence of alpha-chain production.
2010
alpha-thalassemia; HbH disease; alpha-MCS-R
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/35447
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