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Hemoglobin
international journal for hemoglobin research
Volume 25, 2001 - Issue 4
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Original

INTERACTION OF THE α2 POLYADENYLATION SIGNAL MUTATION (AATAAA → AATA– –) AND α0-THALASSEMIA (– –SEA), RESULTING IN Hb H DISEASE IN A THAI PATIENT

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Pages 383-389 | Received 01 Jun 2001, Accepted 16 Jul 2001, Published online: 07 Jul 2009
 

Abstract

We report a Thai boy with a compound heterozygosity for the α2 polyadenylation signal mutation (AATAAA → AATA– –) and α0-thalassemia (– –SEA), who suffered from Hb H disease with more severe clinical symptoms than those usually observed with deletional Hb H disease. His Hb H level was as high as 52% of total hemoglobin. The hematologic data of this unusual case of Hb H disease was compared with those of Hb H disease with a homozygosity for the α2 polyadenylation signal mutation, and compound heterozygosity of the α2 polyadenylation signal mutation and α0-thalassemia. A simple DNA assay based on an allele specific polymerase chain reaction for the detection of this polyadenylation signal mutation is described.

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