New Delhi: Thalassemia is a genetic condition that affects the body’s ability to produce haemoglobin and healthy red blood cells. It causes the body to have less haemoglobin, a critical protein responsible for transporting oxygen throughout the body. With insufficient haemoglobin, people tend to be anaemic. People with thalassaemia often experience fatigue, consistent weakness, breathlessness, pale skin, and dizziness. More severe symptoms include chest pain, irregular heartbeat, and cold hands and feet. Since symptoms of thalassaemia are not usually severe, many women do not realise they are carriers till pregnancy complications arise.
If only one of the parents is a carrier, the disease might not have a significant impact on a child. However, if both parents are carriers, the child has a 25% chance of developing a severe type of the disease—either beta-thalassemia major or alpha-thalassemia major, both of which can result in severe health complications. Dr Aashita Jain, Fertility Specialist, Birla Fertility & IVF, Surat, answered the same.
The Fertility Connection
Women with thalassaemia, particularly those with severe anaemia, may experience recurrent miscarriages, pre-eclampsia, intrauterine growth restriction (IUGR), or preterm labour. In extreme cases, especially with alpha thalassemia major, the foetus may develop anaemia in the womb. This can cause heart failure and hydrops fetalis, a rare condition in which fluid accumulates in the tissues of the fetus, often resulting in miscarriage or stillbirth if not detected and treated in time. Unfortunately, these complications can arise without any early signs, making it essential for women to get proper screening before or early in pregnancy.
Why Thalassaemia Screening Matters
Detecting carriers of thalassaemia early on enables couples to make informed decisions. For pregnant women, early diagnosis provides doctors a chance to closely monitor the pregnancy and manage complications proactively. Thalassaemia screening includes a routine complete blood count (CBC) test, which checks for indicators like low haemoglobin levels and small red blood cell size (microcytosis). If any abnormalities are found, the test can help identify abnormal haemoglobin types. In some cases, genetic testing may be needed to confirm the diagnosis as well as to identify the specific type of thalassaemia.
If both members of the couple are carriers, prenatal diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis may determine if the baby has inherited the condition. This advanced notice allows couples to ensure their pregnancy is treated with expert and multidisciplinary care.
What You Should Do
A couple should undergo thalassaemia screening if:
- They have had multiple miscarriages or persistent anaemia
- They belong to an ethnic group that is at higher risk
- They have a family history of thalassaemia or an unknown blood disorder
- They are planning a pregnancy
Thalassemia can be silent, but its impact on pregnancy is immense. Most complications can be prevented with a simple test and early intervention.
Women with thalassaemia, particularly those with severe anaemia, may experience recurrent miscarriages, pre-eclampsia, intrauterine growth restriction (IUGR), or preterm labour. In extreme cases, especially with alpha thalassemia major, the foetus may develop anaemia in the womb. Health News Health News: Latest News from Health Care, Mental Health, Weight Loss, Disease, Nutrition, Healthcare
