Article
Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama.
Hemoglobin - 1 Jan 2000
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
Abstract excerpt
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...
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