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J Hum Reprod Sci. 2019 Oct-Dec;12(4):341-344. doi: 10.4103/jhrs.JHRS_50_19. Epub 2019 Dec 17.

India's First Child using PGT-M, PGT-A and HLA Matching for Helping a Sibling having β-Thalassemia Major.

Author information

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

Abstract

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.

KEYWORDS:

Human leukocyte antigen matching; hematopoietic stem cell transplantation; preimplantation genetic testing for aneuploidies; preimplantation genetic testing for monogenic diseases; β-thalassemia

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