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

Autor: Lee SY; a Department of Laboratory Medicine, Haematology Division , National University Hospital , Singapore., Goh JH; a Department of Laboratory Medicine, Haematology Division , National University Hospital , Singapore., Tan KML; b Molecular Diagnosis Centre , Department of Laboratory Medicine , National University Hospital , Singapore., Liu TC; a Department of Laboratory Medicine, Haematology Division , National University Hospital , Singapore.
Jazyk: angličtina
Zdroj: Hemoglobin [Hemoglobin] 2017 May; Vol. 41 (3), pp. 209-212. Date of Electronic Publication: 2017 Aug 09.
DOI: 10.1080/03630269.2017.1351986
Abstrakt: 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.
Databáze: MEDLINE
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