Thalassemia is a hereditary genetic disorder in which the body makes an abnormal form of haemoglobin, a protein in red blood cells that carries oxygen. It is caused due to mutations in HBB gene. This disorder is of two different types Thalassemia Major and Thalassemia Minor, depending upon the type of mutations present in patients. In Thalassemia Minor patients there is reduced ability to produce Beta-globin protein and reduced functional capacity of haemoglobin. In Thalassemia Major, patient’s Beta-globin is not produced and has dysfunctional haemoglobin.
Children affected with Beta Thalassemia exhibits the symptoms of anaemia, poor growth and skeletal abnormalities during infancy.
In India 1 out of 14 people are reported as carrier for different type of Thalassemia. Each year about 40,000 infants are born with serious hemoglobinopathies and carrier frequency is 270 million. The disease follows an autosomal recessive pattern of inheritance. If both the parents are carrier, there are 25% chances of their children carrying the faulty gene. Therefore, it is strongly recommended to undergo genetic testing for Beta Thalassemia to avoid serious consequences in new born children.
Mylab Discovery solutions provides β-Thalassemia Mutation Detection kit which includes extraction reagents for blood sample and PCR amplification reagents for six most common mutations in β-globin gene