Prenatal diagnosis of hemoglobinopathies in Hacettepe University, Turkey.

Abstract:

:Between 1983 and 2008, prenatal diagnostic procedures for identifying hemoglobinopathies were performed in 947 at-risk fetuses. Seventy-six percent of the fetuses were at risk for β-thalassemia major and 16% for sickle cell anemia; only a small percentage (7%) were at risk for compound heterozygosity of β-thalassemia and an abnormal hemoglobin of the β chain. The results of the study showed that β gene mutations in hemoglobinopathies have a very broad spectrum. Seven hundred and thirty of the 947 fetuses examined using the DNA technique showed 88 different combinations of 27 different mutations. Although the number of fetuses evaluated was far below the desired target, the termination of 261 affected fetuses provided both psychological and economic relief for the parents and was economically beneficial for the country in the long term.

journal_name

Pediatr Hematol Oncol

authors

Beksac MS,Gumruk F,Gurgey A,Cakar N,Mumusoglu S,Ozyuncu O,Altay C

doi

10.3109/08880018.2010.507690

subject

Has Abstract

pub_date

2011-02-01 00:00:00

pages

51-5

issue

1

eissn

0888-0018

issn

1521-0669

journal_volume

28

pub_type

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