Hemoglobin Hammersmith [beta 42(CD1) Phe --> Ser] causing severe hemolytic anemia in a Japanese girl.
Hemoglobin Hammersmith, a rare, unstable hemoglobin variant, was diagnosed in a 9-year-old Japanese girl. She presented with the typical manifestations of this disorder, including neonatal hyperbilirubinemia, followed by progressive hepatosplenomegaly, jaundice, and bilirubinuria. Because of severe hemolytic anemia, she received transfusions of red blood cells every 3 to 4 weeks. However, she underwent splenectomy at the age of 4 years and has continued to be in partial remission without requiring further transfusions. DNA sequence analysis of the polymerase chain reaction-amplified beta-globin gene revealed a point mutation (T --> C) in the second nucleotide of the 42nd codon of the beta-globin chain (beta 42(CD1) Phe --> Ser).
Akiyama
Masaharu
M
Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan. makiyama@jikei.ac.jp
Murayama
Shizuko
S
Yokoi
Kentaro
K
Yanagisawa
Takaki
T
Hattori
Yukio
Y
Yamashiro
Yasuhiro
Y
Eto
Yoshikatsu
Y
Fujisawa
Kohji
K
D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002648:Child; D017707:Erythrocyte Transfusion; D005260:Female; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics*; D006801:Humans; D007564:Japan; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA
D006455:Hemoglobins, Abnormal; C011478:hemoglobin Hammersmith; D005914:Globins