Case report: prenatal diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a family with an adult male patient.
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.
Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China.
Ru
R
Li
Ting
T
Wang
Xing-Mei
XM
Xie
Dong-Zhi
DZ
Li
D000328:Adult; D000743:Anemia, Hemolytic / Q000150:complications; D001483:Base Sequence; D002675:Child, Preschool; D003490:Cyanosis / Q000150:complications; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006453:Hemoglobinopathies / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010649:Phenylalanine / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012694:Serine / Q000235:genetics; D013163:Splenomegaly / Q000150:complications; D055544:beta-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C011478:hemoglobin Hammersmith; D012694:Serine; D010649:Phenylalanine