Hemoglobin Constant Spring is an elongation mutation of the alpha 2-globin locus that results in a thalassemic phenotype. It has a high prevalence in Asian populations. When inherited with other alpha-thalassemia determinants, the Constant Spring gene has the potential to cause severe forms of alpha-thalassemia. Accurate diagnosis of the condition with standard hemoglobin electrophoresis is unr...

Thalassemias are hereditary anemia syndromes occurring due to erroneous producing of globin chain of hemoglobin. Thalassemia syndromes are named according to the type of the affected globin chain. The most common types of thalassemia are alpha thalassemia and beta thalassemia. In α-thalassemia, α-globin chain production is either by decreased or completely disappeared. The gene encoding the α-g...

BACKGROUND Microcytic hypochromic anemia is a common condition in clinical practice, and alpha-thalassemia has to be considered as a differential diagnosis. AIMS This study was conducted to evaluate the frequency of alpha-gene, beta-gene and hemoglobin variant numbers in subjects with microcytic hypochromic anemia. SETTING AND DESIGNS Population-based case-control study in the Iranian popul...

BACKGROUND This study was designed to determine relationship between the glucose metabolism disorder (the insulin resistance and the impaired glucose tolerance) and α-thalassemia. METHODS In this historical cohort study, 80Alpha-thalassemia carriers and 80 healthy people were enrolled. The participants had no diabetes familial history and the waist circumference and blood pressure were in nor...

The life threatening anemia in beta-thalassemia major (Cooley's anemia) is characterized by profound intramedullary lysis, the cause of which is incompletely understood. Using marrow obtained from beta thalassemia major patients undergoing allogeneic bone marrow transplantation in Pesaro Italy, it became possible to directly study the mechanism of the intramedullary hemolysis. Based on our prev...

The level of Hb C in the erythrocytes of individuals with Hb C trait decreases significantly in the presence of coexisting alpha-thalassemia. This relationship may result from the higher affinity of beta A than beta C for limiting amounts of alpha-globin during hemoglobin assembly. This mechanism would predict that the beta A and beta C synthetic capacity in alpha-thalassemic individuals with H...