Prchal J T, Adler B, Wilson J B, Baysal E, Qin W B, Molchanova T P, Pobedimskaya D D, Kazanetz E G, Huisman T H
Department of Medicine, University of Alabama, Birmingham 35294, USA.
Hemoglobin. 1995 May-Jul;19(3-4):151-64. doi: 10.3109/03630269509036935.
Several members of a large Caucasian family who presented with a congenital Heinz body hemolytic anemia were found to be carriers of the unstable Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2. Identification by protein analysis was hampered by the instability of the variant which complicated its isolation from shipped blood samples. Moreover, the detection of the CTG-->CCG mutation at codon 136 of the alpha 2 gene required the substitution of dGTP by dITP during the DNA sequencing process to prevent the occurrence of secondary structures and compressions in the sequencing gel. The first Hb Bibba heterozygote, characterized in 1968 (1), is believed to be a member of this family. The clinical expression of the disease is surprisingly variable.
