Alpha thalassemia allelic frequency in Lebanon.
Pediatr Blood Cancer
; 62(1): 120-2, 2015 Jan.
Article
en En
| MEDLINE
| ID: mdl-25284125
ABSTRACT
BACKGROUND:
Hemoglobinopathies are the most common reported monogenic disorders worldwide. It is well established that Mediterranean and Arab countries are high risk areas for thalassemia in general, and for alpha thalassemia in particular. Reports of alpha thalassemia gene mutations from the Lebanese population are limited. PROCEDURE We investigated the spectrum of alpha thalassemia mutations in a sample of 70 unrelated Lebanese families. Six different mutations of alpha thalassemia gene were identified.RESULTS:
The most prevalent mutations were the single gene deletion -α(3.7) (43%) and the non-gene deletion α2 IVS1 [-5nt] (37%). The double deletional determinant -(MED) was detected only in 14% of thalassemic chromosomes.CONCLUSION:
We determined the mutational spectrum of alpha thalassemia which might be used in the future for molecular investigations of the disease in susceptible patients in our population.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Talasemia alfa
/
Globinas alfa
/
Mutación
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Líbano