Hemoglobin Hammersmith [β 42(CD1) Phe → Ser] causing severe hemolytic anemia in a Japanese girl

Pediatric Blood and Cancer

Volumn 47, Issue 6, 2006, Pages 839-841

  Akiyama, Masaharu ^a   Murayama, Shizuko ^a   Yokoi, Kentaro ^a   Yanagisawa, Takaki ^a   Hattori, Yukio ^b   Yamashiro, Yasuhiro ^b   Eto, Yoshikatsu ^a   Fujisawa, Kohji ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YAMAGUCHI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

globin; Hemoglobin Hammersmith; Hemolytic anemia; Unstable hemoglobin

Indexed keywords

BETA GLOBIN; BILIRUBIN; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; CASE REPORT; DNA SEQUENCE; ERYTHROCYTE TRANSFUSION; FEMALE; HEMOGLOBIN HAMMERSMITH; HEMOGLOBINOPATHY; HEMOLYTIC ANEMIA; HEPATOSPLENOMEGALY; HUMAN; HYPERBILIRUBINEMIA; JAPAN; NEWBORN JAUNDICE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REMISSION; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLENECTOMY;

ANEMIA, HEMOLYTIC, CONGENITAL; CHILD; ERYTHROCYTE TRANSFUSION; FEMALE; GLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; JAPAN; POINT MUTATION; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 33749186786     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.20533     Document Type: Article

References (10)

1. Dacie JV, Shinton NK, Gaffney PJ, et al. Haemoglobin Hammersmith (β 42 (CD1) Phe → Ser). Nature 1967;216:663-665.
2. Shinton NK, Thursby-Pelham DC, Williams HP. Congenital Heinz-body haemolytic anaemia due to Haemoglobin Hammersmith. Postgrad Med J 1969;45:629-632.
3. Wajcman H, Leroux A, Labie D. Functional properties of hemoglobin Hammersmith. Biochimie 1973;55:119-125.
4. Ohba Y, Miyaji T, Matsuoka M, et al. Hemoglobin Chiba: Hb Hammersmith in a Japanese girl. Nippon Ketsueki Gakkai Zasshi 1975;38:53-58.
5. Rahbar S, Feagler RJ, Beutler E. Hemoglobin Hammersmith (β 42 (CD1) Phe replaced by Ser) associated with severe hemolytic anemia. Hemoglobin 1981;5:97-105.
6. Schroeder WA, Shelton JB, Shelton JR, et al. Identification of eleven human hemoglobin variants by high-performance liquid chromatography: additional data on functional properties and clinical expression. Biochem Genet 1982;20:133-152.
7. Rahbar S, Bennetts GA, Ettinger LJ. Hemoglobin Hammersmith as the cause of severe hemolytic anemia in a Chinese girl. Am J Pediatr Hematol Oncol 1986;8:13-17.
8. Dianzani I, Ramus S, Cotton RG, et al. A spontaneous mutation causing unstable Hb Hammersmith: Detection of the β 42 TTT → TCT change by CCM and direct sequencing. Br J Haematol 1991;79:127-129.
9. 242 (CD1) Phe → Ser observed in an Indian child; identification by HPLC and by sequence analysis of amplified DNA. Hemoglobin 1992;16:19-25.
10. Tuohy AM, Mckie VC, Sabio H, et al. Hb Hammersmith [β 42 (CD1) Phe → Ser]: Occurrence as a de novo mutation in black monozygotic twins with multiple congenital anomalies. J Pediatr Hematol Oncol 1998;20:563-566.