Hemoglobinopathies

Hemoglobinopathies

Hematology Doctor in Pune

Hemoglobinopathies are a diverse group of inherited blood disorders that result from variations in the structure and/or synthesis of hemoglobin. The most common hemoglobinopathies are sickle cell disease, alpha-thalassemia, and beta-thalassemia. These are all autosomal recessive conditions.

These are conditions caused by genetic defects that give rise to abnormalities in the globin chains inside a hemoglobin molecule.

 

Examples of hemoglobinopathies include sickle cell disease and thalassemia.

 

Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some hemoglobinopathies are also thalassemias, but most are not.Hematologist in Pune

error: Content is protected !!