Is genetic counseling important in hemoglobin H disease?

Authors : Yusuf DÖĞÜŞ, Petek ÇÜRÜK, Akif ÇÜRÜK

Pages : 723-727

Doi:10.17826/cumj.1283151

View : 72 | Download : 150

Publication Date : 2023-07-02

Article Type : Other Papers

Abstract :Alpha thalassemia is a genetic disease characterized by insufficient expression or definite absence of the α-globin chain. Three large deletions insert ignore into journalissuearticles values(thal-1; 26.5 kb or MedII, 20.5 kb and 17.4 kb or MedI); and two small deletions insert ignore into journalissuearticles values(thal-2; 4.2 kb and 3.7 kb); have been characterized in our country. In addition, two different PolyA mutations insert ignore into journalissuearticles values(PA1: AATAAA>AATAAG and PA2: AATAAA>AATGA); on the α2-globin gene insert ignore into journalissuearticles values(αα/αPAα);, 5nt deletion insert ignore into journalissuearticles values(αα/α5ntα);, and unstable Hb variant insert ignore into journalissuearticles values(CD 59; GGC→GAC); synthesized by the α1-globin gene insert ignore into journalissuearticles values(αα/ααCD59); have been reported. More than ten different combinations of α-thal-1 and α-thal-2 insert ignore into journalissuearticles values(--/-α); or HbH genotypes with point mutations insert ignore into journalissuearticles values(--/αPAα or --/ααCD59); were determined. In this study, which was carried out in Çukurova region, it is aimed to emphasize the importance of giving genetic counseling to families with alpha thalassemia carriers and to determine genotype combinations. DNA was isolated from blood samples taken from 5 children and their families who were admitted to Çukurova University Balcalı Hospital and diagnosed with severe anemia insert ignore into journalissuearticles values(Hb <9, MCV <70); as a result of blood count HbA2 values were measured by HPLC. Gene deletions were determined by multiplex PCR. When two families with two children are compared, the fact that the second child of the family who receives genetic counseling service is a carrier and the second child of the family who does not receive genetic counseling service is patient highlights the importance of genetic counseling service.
Keywords : HbH, gen delesyonu, alfa talasemi