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Hemoglobin Hammersmith [β 42(CD1) Phe → Ser] causing severe hemolytic anemia in a Japanese girl
Author(s) -
Akiyama Masaharu,
Murayama Shizuko,
Yokoi Kentaro,
Yanagisawa Takaki,
Hattori Yukio,
Yamashiro Yasuhiro,
Eto Yoshikatsu,
Fujisawa Kohji
Publication year - 2006
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20533
Subject(s) - medicine , girl , hemoglobin , hemolytic anemia , anemia , pediatrics , dermatology , immunology , genetics , biology
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 β‐globin gene revealed a point mutation (T → C) in the second nucleotide of the 42nd codon of the β‐globin chain (β 42(CD1) Phe → Ser). Pediatric Blood Cancer 2006;47:839–841. © 2005 Wiley‐Liss, Inc.