Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype.
Hemoglobin
; 32(5): 446-53, 2008.
Article
em En
| MEDLINE
| ID: mdl-18932069
ABSTRACT
The Lepore hemoglobins (Hbs) are a group of structural defects resulting from different recombination events between the delta- and beta-globin genes. They may come with different beta-thalassemia (beta-thal) minor-like phenotypes in the carrier and with variably severe phenotypes in the rare homozygote, and in the common compound heterozygote with beta-thal. The most seriously affected patients are those of Yugoslavian origin presenting with severe transfusion-dependent hemolytic anemia, dyserythropoiesis, hepatosplenomegaly and skeletal malformations. Because of genetic risk, couples where both partners are carriers of these combinations may require prognosis and prenatal diagnosis. In these cases, recognition of the defect must be done with particular care. We report a case of Hb Lepore induced by a yet unknown crossover event found in a 24-year-old Turkish male and compare the novel mutation with those previously reported.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobina A2
/
Hemoglobinas Anormais
/
Talassemia beta
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Holanda