Genetic heterogeneity of hemoglobin h disease in Çukurova Region

Hemoglobin H (Hb H) disease is a clinically very variable group of diseases that cause moderate to severe hemolytic anemia. Some patients do not need transfusions at all, while others may require intermittent or even regular transfusions. The most common cause of Hb H disease is a deletion in the 3 alpha globin gene (-α/--). Others are 2 gene deletions and a point mutation involving the α1 or α2 gene (αTα/--) (ααT/--) or specifically homozygous point mutations in the α2 gene (αTα/αTα). In HbH disease, newborns have 20-40% Hb Bart's, which is then replaced by 5-30% HbH. In this study, it was aimed to determine the genetic diversity of HbH Disease in Çukurova Region. DNA was isolated from blood samples that applied to Çukurova University Balcalı Hospital and had severe anemia as a result of blood count (Hb ≤9, MCV ≤70). HbH and HbA2 values were measured by hemoglobin electrophoresis. Gene deletion/point mutations were determined by multiplex PCR and ARMS methods. In the study, 43 cases 17 patients (-α3.7/--20.5), 14 patients (-α3.7/--Med I), 7 patients (α5ntα/α5ntα), 4 patients (αPA2α/αPA2α), 1 patient (α-5ntα/--20.5) were analyzed. HbH is a disorder that can occur as a result of the co-inheritance of mild and severe alpha thalassemia carriers. In the study, it was determined that patients with combination of α-globin gene deletions (α3.7/--20.5) were the most common in Çukurova region.