Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.

Shahid Mahmood Baig; Ayesha Azhar; Hammad Hassan; Jamshaid Mahmood Baig; Ayesha Kiyani; Uzma Hameed; Fazli Rabbi; Habib Bokhari; Muhammad Aslam; Mohammad Amin Ud Din; Shehla Anjum Baig; Khalid Hassan; Javed Anwar Qureshi; Tariq Zaman

Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.

Shahid Mahmood Baig, Ayesha Azhar, Hammad Hassan, Jamshaid Mahmood Baig, Ayesha Kiyani, Uzma Hameed, Fazli Rabbi, Habib Bokhari, Muhammad Aslam, Mohammad Amin Ud Din, Shehla Anjum Baig, Khalid Hassan, Javed Anwar Qureshi, Tariq Zaman

Research output: Contribution to journal › Article › peer-review

32 Citations (Scopus)

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.

Original language	English
Pages (from-to)	ELT02
Journal	Haematologica
Volume	91
Issue number	3
Publication status	Published - Mar 2006
Externally published	Yes

Cite this

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title = "Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.",

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.",

author = "Baig, {Shahid Mahmood} and Ayesha Azhar and Hammad Hassan and Baig, {Jamshaid Mahmood} and Ayesha Kiyani and Uzma Hameed and Fazli Rabbi and Habib Bokhari and Muhammad Aslam and {Ud Din}, {Mohammad Amin} and Baig, {Shehla Anjum} and Khalid Hassan and Qureshi, {Javed Anwar} and Tariq Zaman",

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T2 - establishment of prenatal diagnosis.

AU - Baig, Shahid Mahmood

AU - Azhar, Ayesha

AU - Hassan, Hammad

AU - Baig, Jamshaid Mahmood

AU - Kiyani, Ayesha

AU - Hameed, Uzma

AU - Rabbi, Fazli

AU - Bokhari, Habib

AU - Aslam, Muhammad

AU - Ud Din, Mohammad Amin

AU - Baig, Shehla Anjum

AU - Hassan, Khalid

AU - Qureshi, Javed Anwar

AU - Zaman, Tariq

PY - 2006/3

Y1 - 2006/3

N2 - 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.

AB - 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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JF - Haematologica

IS - 3

ER -

Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.

Abstract

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