Hemoglobin Hammersmith [β 42 (CD1) Phe → Ser] in a Brazilian girl with congenital heinz body hemolytic anemia [1]

Pediatric Blood and Cancer

Volumn 47, Issue 6, 2006, Pages 855-856

  Sonati, Maria De Fatima ^a   Kimura, E M ^a   Abreu, C F ^a   Oliveira, D M ^a   Pinheiro, V R P ^a   Costa, F F ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG; GLOBIN;

AMINO ACID SUBSTITUTION; BLOOD SMEAR; BRAZIL; CASE REPORT; ERYTHROCYTE TRANSFUSION; FEMALE; GENE SEQUENCE; HEINZ BODY ANEMIA; HEMOGLOBIN HAMMERSMITH; HEMOGLOBINOPATHY; HEPATOSPLENOMEGALY; HUMAN; JAUNDICE; LETTER; NUCLEIC ACID BASE SUBSTITUTION; PALLOR; PRESCHOOL CHILD; PRIORITY JOURNAL; DNA SEQUENCE; GENETIC SCREENING; GENETICS; HEINZ BODY; HEREDITARY HEMOLYTIC ANEMIA; METHODOLOGY; NOTE; PATHOLOGY; POINT MUTATION; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

ANEMIA, HEMOLYTIC, CONGENITAL; BRAZIL; CHILD, PRESCHOOL; FEMALE; GENETIC SCREENING; GLOBINS; HEINZ BODIES; HEMOGLOBINS, ABNORMAL; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 33749187307     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.20851     Document Type: Letter

References (6)

1. Akiyama M, Murayama S, Yokoi K, et al. Hemoglobin Hamersmith [β42 (CD1) Phe-Ser] causing a severe hemolytic anemia in a Japanese girl. Pediatr Blood Cancer 2006; (e-pub ahead of print).
2. Dacie JV, Shinton NK, Gaffney PJ, et al. Haemoglobin Hammersmith [β42 (CD1) Phe-Ser]. Nature 1967;216:663-665.
3. Tuohy AM, Mckie VC, Sabio H, et al. Hb Hammersmith [β42 (CD1) Phe-Ser]: Occurrence as de novo mutation in black monozygotic twins with multiple congenital anomalies. Pediatr Hematol Oncol 1998;20:563-566.
4. Dacie JV, Lewis SM, editors. Practical Haematology. 8th edition. Edinburgh, Hong Kong, London, Madrid, Melbourne, New York and Tokyo: Churchill Livingstone; 1995; 609p.
5. Miranda SRP, Fonseca SF, Figueiredo MS, et al. Hb Köln [α2β298(FG5)val-met] identified by DNA analysis in a Brazilian family. Braz J Genet 1997;20:745-748.
6. Giusti AM, Budiowle BA. A chemiluminescence-based detection system for human DNA quantitation and restriction fragment length polymorphism (RFLP) analysis. Appl Theor Electrophor 1995;5:89-98.