World Thalassamia Day: Here’s how to reduce risk of thalassemia in pregnancy

Pregnant women go through a lot of changes in blood circulation as blood volume increase. Did you know this causes anaemia in over 50 percent of women? Nutritional iron deficiency is still a major challenge in developing countries and is the major reason for maternal deaths which occur because of excessive blood loss during delivery. As per a senior gynaecology expert, a huge chunk of anaemia cases that occur in pregnancy is due to iron deficiency and the rest have to be evaluated for thalassemia or sickle cell defects.

Understanding Thalassemia in pregnant women

Thalassemia is an inherited (genetic) blood disorder. It is due to a defect in the rate of globin chain synthesis, leading to ineffective blood cell formation and reduced life span of red blood cells. The disease may range from minimal suppression of synthesis of affected genes or complete absence. The most prevalent single-gene condition in India is beta-thalassemia. Each year, over 9,000 babies are born with the disease, explains Dr Aruna Kumari, Consultant Obstetrics and Gynaecology, Cloudnine Group of Hospitals, Bellandur, Bengaluru.

“Quantitative hb electrophoresis is required for the diagnosis of beta-thalassemia and should be suspected in cases of elevated HbA2 (>3.5 percent) and HbF,” she adds. If you test positive, you must tell your family so that they can get it checked in case they are planning to have a baby.

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Beta-thalassemia minor

It is the most common and prevalent hereditary disorder where one beta-globin gene is affected and the other is normal. Beta-thalassemia minor shows more significant symptoms of anaemia during pregnancy, particularly during the second and early third trimesters of pregnancy. The condition is not associated with significant negative outcomes in pregnancy. However, it requires close surveillance by a multi-disciplinary team, explains Dr Mitu Shrikhande, Director of Hematology, at Fortis Hospital, Vasant Kunj, New Delhi.

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Thalassemia major

Thalassemia major is the severe form in the spectrum, where the baby needs a blood transfusion every 3-4 weeks based on hb. The only cure for the condition is bone marrow transplantation.

Thalassemia test results before pregnancy are important to know if the silent carrier of the condition is present in you or your partner. If any of the parents are diagnosed with the disease, there are 25 percent chance of the baby getting the disease, a 50 percent chance of becoming a carrier, and a 25 percent of getting the disease.

How to reduce the risk of thalassemia?

Dr Kumari and Dr Shrikhande list down the following ways to reduce the risk or manage thalassemia during pregnancy:

• Awareness is key to preventing the birth of a child with thalassemia major or minor in the baby.
• Women should be treated for iron deficiency in case they are at risk or have been diagnosed with the same.
• It is essential to optimize the Hb by taking the right diet and supplements and by avoiding excess iron.
• Folic acid supplements periconceptional period can prevent neural tube defects.
• If asplenic (HBS/beta Thal), vaccinations for pneumococcus, Haemophilus influenza, and meningococcus has to be given.
• Period growth monitoring and hb levels should be monitored during the antenatal period to prevent Intrauterine growth restriction (IUGR) or preterm births.
• Although it usually occurs later in the gestational period, ultrasound is still beneficial for detecting hydrops fetalis (a sign that indicates an underlying health problem). Intrauterine blood transfusions have shown good success in the fetus with hydrops fetalis.