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Sickle Cell mutation detection using Biotinylated PCR assay

Sickle Cell mutation detection using Biotinylated PCR assay

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. Sickle cell disease is inherited in an autosomal recessive pattern. This means that a child will not inherit the disease unless both parents pass down a defective copy of the gene. People who inherit one good copy of the gene and one mutated copy are carriers. They are clinically normal, but can still pass the defective gene to their children. This test is performed to diagnose inherited blood disorder of sickle cell disease caused by mutation in HBB gene.

Last updated on : January 12, 2023 3:19am