Hemoglobinopathies

Abstract:

Hemoglobinopathies are hereditary disorders of globin synthesis that produce abnormal hemoglobin. Depending on the type of disorder, hemoglobinopathies can be divided into two groups: 1. Quantitative disorders or thalassemia 2. Qualitative disorders or structural variants of hemoglobin (abnormal Hb).The most common hemoglobinopathies such as thalassemia and sickle cell disease (SCD) are relatively straightforward to diagnose. However, there are thousands of other genetic abnormalities in the globin genes, the majority of which are clinically silent; for many of these, characterizing the abnormality and its clinical implications is more challenging. It is important to identify clinically significant hemoglobinopathies causing SCD and thalassemia to inform the affected patients about the optimal treatment and to offer genetic counseling and reproductive options to the carriers.

Key words:
anemia; diagnosis; hemoglobinopathies; sickle cell; thalassemia; therapy