title: Compound heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (Aγ81Leu-β86Ala) in a Ugandan woman.
abstract: 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].
authors.affiliation: Quest Diagnostics Nichols Institute, 14225 Newbrook Drive, Chantilly, VA, USA. zeqiu.j.han@questdiagnostics.com
authors.forename: Zeqiu J
authors.initials: ZJ
authors.lastname: Han
authors.forename: Cristina
authors.initials: C
authors.lastname: Lapuz
authors.forename: Jill F
authors.initials: JF
authors.lastname: Rovenger
authors.forename: Peter A
authors.initials: PA
authors.lastname: Dreyfus
authors.forename: Beverly G
authors.initials: BG
authors.lastname: Vispo
authors.forename: Ching-Nan
authors.initials: CN
authors.lastname: Ou
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.forename: Monica V E
authors.initials: MV
authors.lastname: Gallivan
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis / Q000235:genetics; D014454:Uganda
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C040843:hemoglobin Kenya; D005319:Fetal Hemoglobin