The first South American case of pre-implantation genetic diagnosis to select compatible embryo for cord blood transplantation as treatment for sickle cell anemia

Sickle cell anemia is an inherited systemic hemoglobinopathy that affects hemoglobin production in red blood cells, leading to early morbidity and mortality. It is caused by a homozygous nucleotide substitution (c.20A>T) in the β-globin gene (HBB) that changes a glutamic acid to a valine in the p...

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Bibliographic Details
Published in:	JBRA assisted reproduction Vol. 22; no. 1; pp. 71 - 74
Main Authors:	Martinhago, Ciro D, Endo, Kalina Rn, Oliveira, Mariana A, Dias, Alex Mm, Pereira, Gislaine S, Azzolini, Augusto M, Estrada, Paula Rq, Bruzaca, Caio G, Martinhago, Ana Carolina N
Format:	Journal Article
Language:	English
Published:	Brazil Sociedade Brasileira de Reprodução Humana (Brazilian Society of Assisted Reproduction) 01-01-2018 Brazilian Society of Assisted Reproduction
Subjects:	Antigens Bone marrow Case Report Case reports Disease Genetic counseling Medical diagnosis Mutation Parents & parenting Sickle cell anemia Stem cell transplantation Stem cells Transplants & implants Brazil stem cell transplantation preimplantation genetic diagnosis sickle cell anemia
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Summary:	Sickle cell anemia is an inherited systemic hemoglobinopathy that affects hemoglobin production in red blood cells, leading to early morbidity and mortality. It is caused by a homozygous nucleotide substitution (c.20A>T) in the β-globin gene (HBB) that changes a glutamic acid to a valine in the protein. We present a case report of a fertile couple, both carriers of the sickle cell anemia mutation, with one affected daughter. Six cycles of assisted reproductive techniques were performed, resulting in 53 embryos in cleavage stage. Each embryo was biopsied and analyzed for pre-implantation genetic diagnosis (PGD) by fluorescent polymerase chain reaction, using polymorphic markers of the region of interest followed by capillary electrophoresis in an automated genetic analyzer. HLA Compatible and normal embryos for the mutation represented 3 (5.66%); while the carriers and compatible 6 (11.32%); therefore, embryos matching those of the affected daughter represented 9 (16.98%). A selected embryo in blastocyst stage was transferred, resulting in a healthy male newborn, who had the umbilical cord blood cells collected and stored. The affected daughter was immunosuppressed and received transplanted cells from the umbilical cord blood of her brother; the treatment was successful. Embryo selection using PGD technologies represent the most effective treatment plan for parents who want to have a healthy child, and it could cure another child already affected by inherited hemoglobinopathy.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1518-0557 1517-5693 1518-0557
DOI:	10.5935/1518-0557.20180017