Journal of Human Reproductive Science
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CASE REPORT Table of Contents   
Year : 2019  |  Volume : 12  |  Issue : 4  |  Page : 341-344
India's first child using PGT-M, PGT-A and HLA matching for helping a sibling having β-thalassemia major

1 NOVA IVI Fertility, Ahmedabad, Gujarat, India
2 Igenomix, New Delhi, India

Correspondence Address:
Dr. Jwal M Banker
NOVA IVI Fertility Hospital, 108 - Swastik Society, Near St. Xavier's Ladies Hostel, Navrangpura, Ahmedabad - 380 009, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jhrs.JHRS_50_19

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β-thalassemia is a common single-gene disorder in India, with hematopoietic stem cell transplantation (HSCT) being the only cure. HSCT with matched unrelated donor is less successful, whereas finding a human leukocyte antigen (HLA)-matched related donor is difficult. Preimplantation genetic testing for monogenic diseases (PGT-M) with HLA matching is a novel option to have a matched sibling for HSCT for couples having an affected child. We present the first such case report in India. A couple, both carriers of β-thalassemia and having an affected son, underwent PGT-M with HLA matching combined with preimplantation genetic testing for aneuploidies of embryos to have a β - thalassemia-free child. This resulted in birth of a 10/10 HLA-matched sibling.

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