Alpha Thalassemia Mutations Detection, EDTA Blood

Alpha-Thalassemia by PCR Test Overview

Alpha Thalassemia is caused due mutation of a gene that controls formation of a protein called alpha globin. Haemoglobin is made up of two chains of alpha globin and two chains of beta globin. This condition leads to insufficient red blood cells, causing various symptoms and complications.

Alpha-thalassaemia is a genetic disorder affecting haemoglobin production due to mutations or deletions in alpha-globin genes, leading to anaemia and related symptoms. The alpha-thalassaemia by PCR test is a molecular diagnostic method that identifies these genetic abnormalities using real-time polymerase chain reaction (PCR) with melting curve analysis or DNA sequencing. This test plays a vital role in diagnosing the condition, detecting carriers, and providing prenatal diagnoses. It supports genetic counselling and family planning by enabling accurate identification of the disorder and its inheritance patterns, making it an essential tool for managing alpha thalassaemia effectively.