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

Shir-Ying Lee1, Jia-Hui Goh1, Karen M L Tan2

  • 1a Department of Laboratory Medicine, Haematology Division , National University Hospital , Singapore.

Hemoglobin
|August 10, 2017
PubMed

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.

Keywords:
DiagnosisHb H diseaseHb Helsinkielectrophoresishigh oxygen affinity

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