TY - JOUR
T1 - β-thalassemia in Pakistan
T2 - A pilot program on prenatal diagnosis in Multan
AU - Mahmood Baig, Shahid
AU - Sabih, Dure
AU - Rahim, Muhammad Kashif
AU - Azhar, Aysha
AU - Tariq, Muhammad
AU - Sajid Hussain, Muhammad
AU - Saqlan Naqvi, Syed Muhammad
AU - Raja, Ghazala Kaukab
AU - Khan, Tahir Naeem
AU - Jameel, Muhammad
AU - Iram, Zahra
AU - Noor, Samia
AU - Baig, Usman Raza
AU - Qureshi, Javed Anver
AU - Baig, Shehla Anjum
AU - Bakhtiar, Syeda Marriam
PY - 2012/3
Y1 - 2012/3
N2 - Prenatal diagnosis (PND) of β-thalassemia has been underutilized in Pakistan because of a number of social and economic factors. National Institute for Biotechnology and Genetic Engineering Faisalabad in collaboration with Multan Institute of Nuclear Medicine and Radiotherapy Multan introduced free PND service for carrier couples of Multan district. Multan has a population of about 4 million. More than 170 couples registered for retrospective PND and in 2 years 105 PND were carried out through first trimester chorionic villus sampling. Almost 90% of these couples were unable to afford the cost of PND and would not have undergone the test as free service was not available. Monoplex and Multiplex Amplification Refractory Mutation System-polymerase chain reaction and genomic DNA sequencing were used for detection of IVS (intervening sequence)-I-5 (G-C), FSC (frameshift codon)-8/9 (+G), FSC-41/42 (-TTCT), IVS-I-1 (G-T), 619 bp deletion, and CD-15 (G-A) β-globin mutations. Eighty-one percent (85/105) couples analyzed were in a consanguineous marriage. Twenty-three fetuses were found homozygous mutant and all couples opted for discontinuation of affected pregnancies. More families are registering for PND after establishment of this free and accessible PND service.
AB - Prenatal diagnosis (PND) of β-thalassemia has been underutilized in Pakistan because of a number of social and economic factors. National Institute for Biotechnology and Genetic Engineering Faisalabad in collaboration with Multan Institute of Nuclear Medicine and Radiotherapy Multan introduced free PND service for carrier couples of Multan district. Multan has a population of about 4 million. More than 170 couples registered for retrospective PND and in 2 years 105 PND were carried out through first trimester chorionic villus sampling. Almost 90% of these couples were unable to afford the cost of PND and would not have undergone the test as free service was not available. Monoplex and Multiplex Amplification Refractory Mutation System-polymerase chain reaction and genomic DNA sequencing were used for detection of IVS (intervening sequence)-I-5 (G-C), FSC (frameshift codon)-8/9 (+G), FSC-41/42 (-TTCT), IVS-I-1 (G-T), 619 bp deletion, and CD-15 (G-A) β-globin mutations. Eighty-one percent (85/105) couples analyzed were in a consanguineous marriage. Twenty-three fetuses were found homozygous mutant and all couples opted for discontinuation of affected pregnancies. More families are registering for PND after establishment of this free and accessible PND service.
KW - ARMS-PCR
KW - chorionic villus sampling
KW - consanguinity
KW - prenatal diagnosis (PND)
KW - β-thalassemia
UR - http://www.scopus.com/inward/record.url?scp=84857910091&partnerID=8YFLogxK
U2 - 10.1097/MPH.0b013e31823752f3
DO - 10.1097/MPH.0b013e31823752f3
M3 - Article
C2 - 22258353
AN - SCOPUS:84857910091
SN - 1077-4114
VL - 34
SP - 90
EP - 92
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
IS - 2
ER -