Open AccessIndia's first child using PGT-M, PGT-A and HLA matching for helping a sibling having β-thalassemia major
Author(s) -
Jwal Banker,
Parul Arora,
Rajni Khajuria,
Manish Banker
Publication year - 2019
Publication title -
journal of human reproductive sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.484
H-Index - 31
eISSN - 0974-1208
pISSN - 1998-4766
DOI - 10.4103/jhrs.jhrs_50_19
Subject(s) - sibling , human leukocyte antigen , thalassemia , hematopoietic stem cell transplantation , savior sibling , immunology , preimplantation genetic diagnosis , medicine , beta thalassemia , transplantation , genetics , pediatrics , biology , pregnancy , antigen , psychology , developmental psychology
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.