Beta talasemi major prenatal tanı analizi yapılan üçüz olgu

Hazan F; Dursun G; İtırlı G; Yalaza C; Onay H; Akercan F; Özkınay F

EN TR

Analysis of prenatal diagnosis of beta thalassemia major in the case of triplets

Abstract

Beta thalassemia is a hereditary blood disease that is characterized by reduction or absence of beta-globin chain synthesis. The most common mutation, which causes beta thalassemia and is an important health problem in Turkey, was IVS I-110 in the HBB gene. The first step in prenatal diagnosis is to show through genetic analysis that both parents are carriers of the disease. The method for prenatal diagnosis of the disease is multiplying the fetal DNA by making use of the Polymerase-Chain-Reaction and mutation analysis of the HBB gene. Presented in this case study are: father and mother, both carriers of the disease, mother pregnant with triplets, one of the fetuses prenatally diagnosed to have homozygote beta-thalassemia and the other two fetuses with heterozygote beta- thalassemia. The sick fetus has been eliminated through selective feticide. This family is presented in order to emphasize the importance of prenatal diagnosis of beta thalassemia as a major disease, which has a high carrier ratio in our country, through molecular genetic analysis is possible and also to show a way to eliminate sick fetuses in complex cases such as triplet pregnancies.

Keywords

Beta thalassemia major, prenatal diagnosis, feticide

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Hazan F

Dursun G

İtırlı G

Yalaza C

Onay H

Akercan F

Özkınay F

Publication Date

March 1, 2013

Submission Date

March 1, 2013

Acceptance Date

-

Published in Issue

Year 2013 Volume: 52 Number: 1

IZ

https://izlik.org/JA73BY98WX

Cite

RIS / Bibtex

Vancouver

1.Hazan F, Dursun G, İtırlı G, Yalaza C, Onay H, Akercan F, Özkınay F. Beta talasemi major prenatal tanı analizi yapılan üçüz olgu. EJM [Internet]. 2013 Mar. 1;52(1):45-8. Available from: https://izlik.org/JA73BY98WX

Analysis of prenatal diagnosis of beta thalassemia major in the case of triplets

Abstract

Keywords