Thalassemia is a serious but preventable genetic blood disorder that affects the body’s ability to produce normal haemoglobin. Prevention remains the most effective approach, and one of the most important tools in this effort is carrier screening.
A simple test can identify whether a person carries the gene for thalassemia or related haemoglobin disorders, and timely screening can stop the condition before it affects the next generation.
A person is considered a "carrier" if they inherit one normal gene and one mutated gene related to haemoglobin production. Carriers usually do not show symptoms, but if both partners in a couple are carriers of the same condition, there is a 25% chance with each pregnancy that their child will inherit the disorder.
Therefore, screening ideally should take place before conception. However, many couples only undergo testing during pregnancy, which can lead to emotional distress and limited decision-making time.
Carrier screening should be offered to individuals or couples from communities with a high prevalence of thalassemia or hemoglobinopathies.
In South Asia, particularly India, thalassemia is widespread due to diverse genetic patterns and high carrier rates. The most common types are alpha-thalassemia and beta-thalassemia, both of which result in microcytic anaemia and can vary in severity.
Initial testing includes a complete blood count (CBC) and either hemoglobin electrophoresis or high-performance liquid chromatography (HPLC) to detect abnormal hemoglobin variants and measure hemoglobin A2 and F levels.
If the CBC shows microcytosis (mean corpuscular volume