Spontaneous mutation of hemoglobin Lufkin in a white boy.
J Pediatr Hematol Oncol
; 31(4): 281-4, 2009 Apr.
Article
em En
| MEDLINE
| ID: mdl-19346882
ABSTRACT
A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also revealed a beta(0) thalassemia mutation, IVS-1-1 (G to A), on both the patient and his mother. Both parents lack the Hb Lufkin mutation. Molecular studies, human leukocyte antigen, and red blood cells phenotypic studies indicate spontaneous mutation of Hb Lufkin in this patient.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hemoglobinas Anormais
/
Talassemia beta
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População Branca
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article