India's first child using PGT-M, PGT-A and HLA matching for helping a sibling having β-thalassemia major

• Main Authors: Jwal M Banker (Author), Parul Arora (Author), Rajni Khajuria (Author), Manish Banker (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 0974-1208; 1998-4766; 10.4103/jhrs.JHRS_50_19
• Keywords: human leukocyte antigen matching; hematopoietic stem cell transplantation; preimplantation genetic testing for aneuploidies; preimplantation genetic testing for monogenic diseases; β-thalassemia; Gynecology and obstetrics; RG1-991
• Source: Journal of Human Reproductive Sciences, Vol 12, Iss 4, Pp 341-344 (2019)

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.