Thalassemia, is caused by an anomalous structure of haemoglobin in red blood cells. This leads to poor quality of red blood cells, making them more fragile and vulnerable to destruction, leading to chronic anaemia. In severe cases, patients often require regular blood transfusions.

Pre-marital thalassemia screening is vital

This is the process of determining the presence of thalassemia carrier genes in both partners before they get married. If both spouses are carriers, there is a fair chance of the transfer of mutated genes to their children. There is approximately a 25% chance of their children being thalassemia major, 50% chance of them being thalassemia minor (carriers of the disorder) and only a 25% probability of being healthy.

The presence of a carrier gene in only one of the partners is deemed to be safe as it produces children with a 50% chance of normal genes and 50% of carrier genes. No thalassemia major child will be born to such a couple. Premarital screening thus goes a long way in reducing the rate of genetic disorders as predominant as thalassemia.

Such screening gives couples precious information about their genetic status, enabling them to take informed decisions about family planning. Prior testing helps detect if both partners are carriers, which can influence their future choices and help them prepare for any future challenges.

What is premarital screening?

Doctors diagnose the disease based on clinical symptoms, complete blood count (CBC) and biochemical tests, enabling them to identify appropriate treatment protocols. To prevent passing thalassemia to future generations, couples should take the following steps before tying the knot:

Premarital counselling: Couples planning to marry should undergo screening and testing for thalassemia prior to the wedding.
Family screening: Relatives of thalassemia patients should also be screened.
Genetic counselling for carrier couples: If both partners carry the same kind of thalassemia gene, they should go for genetic counselling before planning a family.
Foetal screening: If a thalassemia carrier couple conceive, foetal screening must be done between 12 and 18 weeks of pregnancy at a specialized centre.
Specialist consultation: Before their wedding, couples should seek medical advice from haematology, paediatrics and genetics specialists to fully comprehend the risks and management of thalassemia.

The National Health Mission Guidelines for Prevention and Control of Haemoglobinopathy in India reveal alarming statistics, indicating that India has the highest number of children with thalassemia major in the world, with 10,000 to 15,000 babies with the condition born annually.

Benefits of thalassemia testing

Prevention of thalassemia: Testing can identify carriers, thus preventing transmission of thalassemia to future generations.

Early detection: Identifying carriers at an early stage helps in timely intervention and treatment.

Informed family planning: When both partners are identified as carriers, they can take informed decisions on family planning, try out non-invasive diagnostic techniques or other measures.

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