Hemoglobin · 2012
A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Park Seungman, Kang Hyoung Jin, Cho Sung Im, Kim So Yeon, Seong Moon-Woo, Park Sung Sup
Аннотация
All Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT] patients reported so far have been female, suggesting that this condition may occur as a negative, fatal intrauterine selection against males. In this case report, we describe a male case of Hb Hammersmith. A 6-month-old male patient, born from ovum donation, presented with hemolytic anemia and cyanosis. Hemoglobin (Hb) electrophoresis revealed decreased Hb A (54.0%) and Hb A(2) (0.3%) and markedly increased Hb F (45.7%) levels. Direct sequencing revealed a missense mutation in the HBB gene, c.128T>C (p.Phe42Ser), which is known as Hb Hammersmith. This mutation was not identified in any of this patient's family members. This is the first case of Hb Hammersmith in a male patient, and this study demonstrates that Hb Hammersmith is likely a non fatal condition for males during the intrauterine period.