Hemoglobin E-beta thalassemia: factors affecting phenotype.
Indian Pediatr
;
2005 Apr; 42(4): 357-62
Artículo
en Inglés
| IMSEAR
| ID: sea-13497
ABSTRACT
The phenotype of E-beta-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-beta-thalassemia and correlate with HbE, HbF, E/F ratios, beta-mutation and Xmn I polymorphism. Thirty cases of E-beta-thalassemia (23 with childhood onset) were studied. HbE levels were quantitated by HPLC. Xmn1 polymorphism and beta-mutations were studied by PCR-RFLP and ARMS respectively. Commonest features were pallor (100%), splenomegaly (74%), and hepatomegaly (65%), 43% (10/23) were on regular transfusions at diagnosis. One case presented with paraplegia. Patients heterozygous for Xmn I polymorphism (+/-) had later onset (>3 yrs) compared to homozygous (-/-) absence (0.5-2.8 yrs). Most (69.6%) showed beta-mutation IVS 1-5 (G-->C). Negative correlation was found between age of onset and HbE. Thus, presentation is similar to previously reported Thai cases. Heterozygosity of Xmn I polymorphism also delays disease onset. Early diagnosis facilitates appropriate management and prenatal diagnosis.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Femenino
/
Humanos
/
Masculino
/
Hemoglobina Fetal
/
Globinas
/
Hemoglobina E
/
Niño
/
Preescolar
/
Talasemia beta
Tipo de estudio:
Estudio de tamizaje
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2005
Tipo del documento:
Artículo
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