Sickle cell disease is a disorder that affects the red blood cells, which use a protein called hemoglobin to transport oxygen from the lungs to the rest of the body. Normally, red blood cells are round and flexible so they can travel freely through the narrow blood vessels, while sickled red blood cells are fragile and prone to rupture.
The hemoglobin molecule has two parts: an alpha and a beta. Patients with sickle cell disease have a mutation in a gene on chromosome 11 that codes for the beta subunit of the hemoglobin protein. As a result, hemoglobin molecules don’t form properly, causing red blood cells to be rigid and have a concave shape (like a sickle used to cut crops). These irregularly shaped cells get stuck in the blood vessels and are unable to transport oxygen effectively, causing pain and damage to the organs.
A person with SCD can pass on this disease to his/her children. This disease transmit in autosomal recessive inheritance, in which, there are 50% chance of having carrier, 25% chances of having normal and 25% chances of having affected child/birth, if both of the parents are carrier with no symptoms.
Molecular analysis of of HBS gene will be performed to diagnose a patient through ARMS-PCR method or direct sequence analysis of the HBS gene.