Hemoglobin Hammersmith [beta 42(CD1) Phe --> Ser] causing severe hemolytic anemia in a Japanese girl.

Abstract

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).

• Authors: Masaharu Akiyama, Shizuko Murayama, Kentaro Yokoi, Takaki Yanagisawa, Yukio Hattori, Yasuhiro Yamashiro, Yoshikatsu Eto, Kohji Fujisawa
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 47 Issue 6 Pg. 839-41 (Nov 2006) ISSN: 1545-5009 [Print] United States
• PMID: 16078214 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2005 Wiley-Liss, Inc.

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Hammersmith
• Globins

Topics

• Anemia, Hemolytic, Congenital (diagnosis, genetics, therapy)
• Child
• Erythrocyte Transfusion
• Female
• Globins (genetics)
• Hemoglobins, Abnormal (analysis, genetics)
• Humans
• Japan
• Point Mutation
• Polymerase Chain Reaction (methods)
• Sensitivity and Specificity
• Sequence Analysis, DNA