Case Report: Prenatal Diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a Family with an Adult Male Patient

Abstract

Hb Hammersmith [β42(CD1)Phe → Ser; HBB: c.128T > C] is a rare, unstable hemoglobin (Hb) variant. In this case report, we describe another male case of Hb Hammersmith. A 39-year-old male had hemolytic anemia, cyanosis and splenomegaly since 6 months after birth. He passed the disease allele to his daughter, a 3-year-old girl, who also had hemolytic anemia and splenomegaly. This mutation was not identified in the parents and two brothers of the father. Early prenatal diagnosis was performed in the second pregnancy in this family. This is the first case of Hb Hammersmith in an adult male patient.

• Hb Hammersmith
• Hemoglobinopathy
• Unstable hemoglobin (Hb) variant