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Compound heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (Aγ81Leu-β86Ala) in a Ugandan woman

Compound heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (Aγ81Leu-β86Ala) in a Ugandan woman

Hemoglobin 36(3): 270-275

Hb Kenya is a hemoglobin (Hb) tetramer composed of two normal α- and two non α-globin chains. The latter are the product of a fusion gene in which the 5' end is (A)γ and the 3' end is β. The crossover point is between codon 81 of the (A)γ gene and codon 86 of the β gene. Like the other non α genes, the hybrid protein product ((A)γ81Leu-β86Ala) has 146 amino acids. The purpose of this report is to highlight the laboratory findings of Hb Kenya and to emphasize the pitfalls in misdiagnosis, particularly when associated with another variant such as Hb S [β6(A3)Glu→Val].

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Accession: 052269074

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PMID: 22384817

DOI: 10.3109/03630269.2012.658483

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