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Hemoglobin
international journal for hemoglobin research
Volume 41, 2017 - Issue 3
118
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Short Communication

Coinheritance of High Oxygen Affinity Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] with Hb H Disease

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Pages 209-212 | Received 22 Apr 2017, Accepted 29 Jun 2017, Published online: 09 Aug 2017
 

Abstract

Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] is a high oxygen affinity hemoglobin (Hb) causing polycythemia, whereas Hb H (β4) disease causes mild to severe chronic hemolytic anemia. The clinical characteristics, gel electrophoresis, capillary electrophoresis (CE) and molecular genotyping of a case of Hb Helsinki coinherited with Hb H disease in an ethnic Malay is described, illustrating the interaction between the β-globin variant and coinheritance of three α gene deletions. The proband was asymptomatic, exhibited microcytosis and a normal with Hb value.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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