Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.
Mutations in the HBB gene cause beta thalassemia.
Thalassemia major is inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition - they are called carriers.
India has a huge burden with an estimated 100,000 patients with a beta thalassemia. There are 35-40 million carriers in India.
In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen to many parts of the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.
The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate and may develop yellowing of the skin and whites of the eyes.