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

• Published in: Hemoglobin Vol. 36; no. 3; pp. 270 - 275
• Main Authors: Han, Zeqiu J., Lapuz, Cristina, Rovenger, Jill F., Dreyfus, Peter A., Vispo, Beverly G., Ou, Ching-Nan, Luo, Hong-Yuan, Chui, David H.K., Gallivan, Monica V.E.
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare 01.06.2012; Taylor & Francis
• Subjects: Adult; DNA Mutational Analysis; Female; Fetal Hemoglobin - genetics; Hb Kenya; Hb S; Hemoglobin, Sickle - genetics; Hemoglobinopathies - diagnosis; Hemoglobinopathies - genetics; Hemoglobins, Abnormal - genetics; Heterozygote; Humans; Hybrid protein; Pregnancy; Pregnancy Complications, Hematologic - diagnosis; Pregnancy Complications, Hematologic - genetics; Uganda; Uganda
• ISSN: 0363-0269; 1532-432X
• DOI: 10.3109/03630269.2012.658483

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 Aγ and the 3′ end is β. The crossover point is between codon 81 of the Aγ gene and codon 86 of the β gene. Like the other non α genes, the hybrid protein product (Aγ81Leu-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].