Hemoglobin H hastalığında genetik danışmanlık önemli midir?

Alpha thalassemia is a genetic disease characterized by insufficient expression or definite absence of the α-globin chain. Three large deletions (thal-1; 26.5 kb MedII, 20.5 and 17.4 MedI) two small (thal-2; 4.2 3.7 kb) have been in our country. In addition, different PolyA mutations (PA1: AATAAA>AATAAG PA2: AATAAA>AATGA) on α2-globin gene (αα/αPAα), 5nt deletion (αα/α5ntα), unstable Hb variant (CD 59; GGC→GAC) synthesized α1-globin (αα/ααCD59) reported. More than ten combinations α-thal-1 α-thal-2 (--/-α) HbH genotypes with point (--/αPAα --/ααCD59) were determined. this study, which was carried out Çukurova region, it aimed to emphasize importance giving counseling families alpha carriers determine genotype combinations. DNA isolated from blood samples taken 5 children their who admitted University Balcalı Hospital diagnosed severe anemia (Hb