Hemoglobinopathies are defined as inherited qualitative or quantitative abnormalities of globin synthesis. Thalassemias are generally caused by inadequate quantities of the polypeptide chains that form hemoglobin and the most frequent forms of thalassemia are therefore the α and β-thalassemias. In Sickle cell Anemia, the E6V (glutammic acid to valine at codon 6) mutation replaces a polar by a neutral amino acid on the outer surface of the b-globin molecule. The red blood cells of people with sickle cell disease contain an abnormal type of hemoglobin, called hemoglobin S. There are also some clinically significant variant hemoglobin including hemoglobin C, hemoglobin E, hemoglobin constant spring, hemoglobin Barts and hemoglobin H.
Aims and Scope:
Beta thalassemia Major
Non transfusion dependent thalassemias (NTDT) including thalassemia intermedia
Sickle cell Anemia
Other structural hemoglobinopathies including and not limited to Hemoglobin C and Hemoglobin E diseases.
Genotype phenotype relationship in thaassemias
Updates in diagnosis of hemoglobinopathies
Updates in treatment of hemoglobinopathies
Genetic diagnosis of hemoglobinopathies
Prenatal and Preimplantation genetic diagnosis
Hematopoietic stem cell transplantation in hemoglobinopathies
Updates in assessment of iron overload in hemoglobinopathies