Beta Thalassemia mutation detection using Biotinylated PCR Assay

Thalassemia is an inherited disorder caused by abnormal or missing genes that affect the beta chain of the hemoglobin molecule. There is one beta chain gene on each chromosome # 11, and a total of two #11 chromosomes per person, one inherited from each parent. Both # 11 chromosomes that an affected person has inherited may be abnormal. The abnormal genes do not direct the body to make normal beta chain or normal amounts of beta chains. Inheriting two abnormal genes causes the most severe type of thalassemia called as Thalassemia major. These patients need frequent blood transfusion and may not survive a normal life span. This test is performed to diagnose inherited blood disorder of beta thalassemia, caused by mutation in HBB gene