Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.
Haematologica
; 91(3): ELT02, 2006 Mar.
Article
en En
| MEDLINE
| ID: mdl-16533735
ABSTRACT
We present here an analysis of 888 unrelated beta-thal chromosomes consisting of 444 transfusion dependent children from various regions of Punjab and Islamabad Pakistan. By using Multiplex ARMS- PCR, restriction endonuclease analysis, allele specific oligonucleotide (ASO) hybridization and sequencing, 17 beta-thal mutations and 3 Hb variants were detected in 99.5 % (884/888) of the chromosomes analyzed. First trimester prenatal diagnosis by chorionic villus sampling (CVS) was also carried out in seven pregnancies at risk of beta-thalassemia. Our results indicate that three most common mutations accounted for 86.8% of the beta-thal alleles in this region. These findings have important implications for prevention of beta-thalassemia through genetic counseling and prenatal diagnosis in this part of Pakistan.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Talasemia beta
/
Enfermedades Fetales
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Female
/
Humans
/
Pregnancy
País/Región como asunto:
Asia
Idioma:
En
Revista:
Haematologica
Año:
2006
Tipo del documento:
Article
País de afiliación:
Pakistán