Beta-Globin Gene, β- Thalassemia (22 Mutations) Gene Analysis, By PCR, Blood


In healthy adults, Hemoglobin A is the most prevalent form of circulating Hemoglobin in the body, composed of two α-globin and two β-globin chains. The β-globin genes are found on chromosome 11, one gene on each chromosome. Thalassemia is a group of genetic disorders characterised by quantitative defects in globin chain synthesis. The subsequent absence or decrease of Hemoglobin production results in microcytosis with varying degrees of anemia. These conditions are commonly found in people of Mediterranean, African, Middle Eastern, Indian, Chinese, or Southeast Asian origin. β-Thalassemia (Mediterranean Anaemia) is an autosomal recessive Hemoglobinopathy usually caused by a point mutation or a small deletion or insertion mutation in one of the β- globin (HBB) genes, leading to decreased or absent β- globin chain synthesis


Unbalanced production of α and β- globin molecules impairs erythropoiesis, leading to microcytic hypochromic anaemia. Severely affected individuals with Thalassemia major (β0 -Thal) exhibit severe anaemia, retarded growth and hepatosplenomegaly early in life, delayed puberty and require regular transfusions and management to extend lifespan. Patients with Thalassemia intermedia (β+-Thal) have a later onset of symptoms, require less aggressive treatment, but may experience iron overload and perhaps cirrhosis. β-Thalassemia carriers (Thalassemia trait) are not expected to have adverse health effects beyond mild anaemia

Sample Type, Quantity & Conditions

2 ml EDTA Whole Blood Room Temperature

Special Precautions

Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist. Avoid haemolysed samples. Do not freeze samples. Send tube unopened.

Normal Range

By Report

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