Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.
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.
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE), Faisalabad, Pakistan. shahidbaig@nibge.org
Shahid Mahmood
SM
Baig
Ayesha
A
Azhar
Hammad
H
Hassan
Jamshaid Mahmood
JM
Baig
Ayesha
A
Kiyani
Uzma
U
Hameed
Fazli
F
Rabbi
Habib
H
Bokhari
Muhammad
M
Aslam
Mohammad Amin
MA
Ud Din
Shehla Anjum
SA
Baig
Khalid
K
Hassan
Javed Anwar
JA
Qureshi
Tariq
T
Zaman
D002648:Child; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007194:India; D009154:Mutation; D010154:Pakistan; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017086:beta-Thalassemia / Q000235:genetics*