Ciro Dresch Martinhago, Kalina Renata Naomi Endo, Mariana Angelozzi Oliveira, Alex Marcel Moreira Dias, Gislaine Santos Pereira, Augusto Azzolini de Melo, Paula Regina Queiroz Estrada, Caio Graco Bruzaca, Ana Carolina Nogueira Martinhago
JBRA Assist. Reprod. 2018; 22 (1):71-74
Received July 07, 2017
Accepted December 07, 2017
Abstract
Sickle cell anemia (MIM#603903) is an inherited systemic hemoglobinopathy that affects the 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 an affected daughter. Six cycles of assisted reproductive techniques were performed resulting in 53 embryos in cleavage stage. Each embryo were 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 compatible embryos with daughter affected represented 9 (16.98%). 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 transplated cells from the umbilical cord blood of her brother; the treatment was successful. Selecting embryos with PGD technologies indicate the most effective treatment plan for parents who want to have a healthy child and would cure another children already affected by inherited hemoglobinopathy.