Skip Navigation LinksHome > March 2012 - Volume 34 - Issue 2 > β-Thalassemia in Pakistan: A Pilot Program on Prenatal Diag...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e31823752f3
Original Articles

β-Thalassemia in Pakistan: A Pilot Program on Prenatal Diagnosis in Multan

Mahmood Baig, Shahid PhD*; Sabih, Dure MBBS, MSc; Rahim, Muhammad Kashif MBBS, MSc; Azhar, Aysha PhD*; Tariq, Muhammad PhD*; Sajid Hussain, Muhammad PhD*; Saqlan Naqvi, Syed Muhammad PhD; Raja, Ghazala Kaukab PhD; Khan, Tahir Naeem BSc*; Jameel, Muhammad BSc*; Iram, Zahra MSc*; Noor, Samia MSc*; Baig, Usman Raza BSc*; Qureshi, Javed Anver PhD*; Baig, Shehla Anjum MPhil§; Bakhtiar, Syeda Marriam PhD*

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Abstract

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.

© 2012 Lippincott Williams & Wilkins, Inc.

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