Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia

Alpha thalassemia is a common monogenic disease caused by the defective synthesis of α-globin chains. hb h disease, one of the severe forms of the disease, is caused by the influence of three α-globin genes. in patient with hb h disease, findings such as splenomegaly, growth retardation, jaundice at various levels, ulcers on foot, frequent infection, and bile stones may be seen., because clinical spectrum of hb h disease is widespread, genetic counseling for alpha thalassemia carriers is difficult, to clarify genotype phenotype association, thus, a large number of studies are needed. for this purpose, we present clinic, hematologic and genotypic findings of two patients having hb h disease with their family.