SHARES
Story of a thalassaemic carrier who became a first time mother
(actual name changed)
“My name is Katrina. My husband and I went for medical screening when I was 20 weeks into my first pregnancy, and we got the news we are both thalassaemia carriers. The news left us shocked and devastated.
The doctor explained everything to us, how our children will be at risk and that there is a one in four chance that our baby will be thalassaemic. We had the option to test if our baby is OK and therefore can decide whether to go through with the pregnancy. We struggled and agonised over the matter, but finally decided that life is sacred and did not go for the test. The doctor prescribed folic acid to reduce risk of neural tube defect.
After the birth of my son, the doctor confirmed that he has thalassaemia. We were grief stricken. We do not know anything about the condition and my in-laws started blaming me. Initially I suffered from stress and depression. However with support from my husband and family, I took it in my stride, started learning more about the disease, how to care for my child & teach him how to live with it. “
What is Thalassaemia?
Thalassaemia is an inherited blood disorder where the body is unable to make healthy haemoglobin. Haemoglobin is an iron-rich protein in red blood cells that carries oxygen to body cells and remove carbon dioxide. Therefore, people with thalassaemia experience symptoms including fatigue, shortness of breath, faintness, jaundice and a pale skin. Thalassaemic children may experience delayed growth, poor feeding or skeletal deformities.
The types of thalassaemia vary depending on the part of haemoglobin involved wherein alpha and beta chains make up the components. A mutation in alpha haemoglobin results in alpha-thalassaemia, and vice versa. The more the mutations found on the genes responsible, the more severe the condition. Thalassaemia minor (or thalassaemia trait) has no symptoms but are the carriers; meanwhile, thalassaemia intermedia or thalassaemia major probably requires blood transfusion.
Thalassaemia is most prevalent among certain ethnic groups – Mediterranean, African and Asians. In Southeast Asia, the prevalence range for alpha-thalassaemia is 10–30%; for beta-thalassemia 3–9%
Thalassaemia and Pregnancy
In thalassaemic patients, iron overload from long-term blood transfusion impacts your fertility adversely. However, adequate iron chelation made it possible to preserve fertility. Nevertheless, being thalassaemic may increase the risk of neural tube defect in the baby. Hence, taking folic acid supplement daily reduces the risk. As the growing baby puts the mother’s body under extra strain, transfusion requirements may change throughout the pregnancy.
Thalassaemic parents are often worried about passing the condition to their offspring. Therefore, it is imperative to screen for it before conceiving. Thalassaemia is expressed via recessive genes, it means that the child is only affected with thalassaemia major when he/she inherits two faulty genes from both parents. In other words, the risk of the offspring being thalassaemic is dependent on the parents’ severity of thalassaemia.
For instance, if a normal individual marries a carrier, the offspring has equal chances of being normal or a carrier. On the other hand, if both parents are carriers, then the odds are one-in-four for having a normal baby, one-in-two for giving birth to a carrier or one-in-four for living with thalassaemia. Thus, it might be helpful to consult a genetic counsellor to understand the implications of starting a family.
In short, while advances in medicine had made it possible for couples with thalassaemia to conceive, the prospect of starting a family is not without risk. Thus, talk to your doctor to learn about your options.
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by Joanne Lee
Multipotentialite. Loves creating and seeing ideas come alive. View all articles by Joanne Lee.
