
Sickle Cell Anemia Mutation Detection by DNA sequencing
Sickle cell anemias are inherited disorders that affect the shape of red blood cells (RBC). Normally RBC are round & flexible so that they can move easily through the blood vessels. In Sickle cell anemia, RBC become sickle shaped or like crescent moons, rigid & sticky which can slow or block blood flow. Symptoms include anemia, episodes of pain, swelling of hands & feet. delayed growth, frequent infections & vision problems. For a baby to have Sickle cell anemia, both parents must carry the Sickle cell gene. This disease is prevalent in Africa, Mediterranean region & Middle east. In India, the highest prevalence is seen in Madhya Pradesh. Prevalence of Sickle cell carriers among different tribal groups varies from 1% to 40%. This test detects the mutation in HBB gene that is responsible for inheriting Sickle cell anemia.