Is genetic counseling important in hemoglobin H disease?

Alpha thalassemia is a genetic disease characterized by insufficient expression or definite absence of the & alpha;-globin chain. Three large deletions (thal-1; 26.5 kb or MedII, 20.5 kb and 17.4 kb or MedI) and two small deletions (thal-2; 4.2 kb and 3.7 kb) have been characterized in our country. In addition, two different PolyA mutations (PA1: AATAAA>AATAAG and PA2: AATAAA>AATGA) on the & alpha;2-globin gene (& alpha;& alpha;/& alpha;PA & alpha;), 5nt deletion (& alpha;& alpha;/& alpha;5nt & alpha;), and unstable Hb variant (CD 59; GGC & RARR;GAC) synthesized by the & alpha;1-globin gene (& alpha;& alpha;/& alpha;& alpha;CD59) have been reported. More than ten different combinations of & alpha;-thal-1 and & alpha;-thal-2 (- -/-& alpha;) or HbH genotypes with point mutations (--/& alpha;PA & alpha; or --/& alpha;& alpha;CD59)were determined. In this study, which was carried out in cukurova 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 cukurova University Balcali Hospital and diagnosed with severe anemia (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.