Thalassemia is an inherited blood disorder characterised by the formation of abnormal haemoglobin (oxygen-carrying component of red blood cells) which further leads to the production of deformed red blood cells (RBCs). This results in the spleen destroying the faulty cells. The ill-shaped RBCs might also find it hard to squeeze through capillaries to reach certain tissues, leading to conditions like anaemia. In simple words, thalassemia is a blood condition that causes the body to make fewer healthy red blood cells and less haemoglobin than normal.
However, studies have shown that a prenatal test, that is, blood test during pregnancy can help the doctors understand if your baby is at the risk of thalassemia and it can be prevented. To understand what thalassemia is and how it can be prevented, OnlyMyHealth interacted with Dr Pawan Kumar Singh, Director & HOD, Blood & Marrow Transplant, SHALBY Sanar International Hospitals, Gurugram.
When asked what problems can thalassemia cause, Dr Pawan Kumar Singh said, “It directly impacts the bone marrow which will overwork to produce more RBCs but eventually end up forming more defective cells. Hence, the affected person’s body will be caught in this vicious loop, resulting in symptoms such as paleness of skin, drowsiness, fatigue, shortness of breath, chest pain, rapid heartbeat, fever and others like enlargement of liver and spleen.”
Prenatal Testing
Thalassemia is a hereditary disease and cannot be prevented with medicines or vaccination. According to Dr Singh, the only way by which this disease can be prevented is by knowing the carrier status of the young child bearing couples. This can be known by sample Hb-HPLC Test.
Also read: Childhood Thalassemia: 5 Important Facts Every Parent Should Understand
He explained, “If both the parents are carriers, they can go for prenatal diagnosis after conceiving pregnancy, by doing chorionic villus sampling of developing foetus. They can also go for IVF with preimplantation genetic diagnosis.”
People with no symptoms of the disease may not realise that they are carriers until they have a child with thalassemia. Hence, the need for premarital or prenatal testing becomes imperative for couples soon going to be married or planning a pregnancy. However, both premarital and prenatal testing are still clouded with social stereotypes and taboos resulting in children bearing serious consequences.
Why Is It Important?
Sharing with us a case of his patient, Dr Singh said, “Two years ago an anxious couple entered the OPD, carrying their six-month-old daughter. The girl looked pale, weak and febrile. The parents who seemed clueless about their daughter’s deteriorating health were in desperate need of answers. They had been visiting multiple doctors but had received no satisfactory diagnosis until then.” Blood tests were done and the results were picture-consistent with Thalassemia.
Also read: World Thalassemia Day: IVF And Thalassemia, Does It Help You Prevent Thalassemia?
Adding further, he said, “The diagnosis was confirmed by performing an HPLC test (sensitive to abnormalities in haemoglobin) on both the patient and her parents. The results showed that both parents were carriers (Thalassemia minor) of the disease. The couple had no history of premarital or prenatal testing which could have been a saviour in the situation.”
“Today, the child is two and a half years old and is visiting OPD every month for blood transfusions. Many babies like her are born with moderate to severe forms of this hereditary haemoglobin disorder. These children require life-long blood transfusions. If left untreated, the complications arising from Thalassemia can eventually lead to organ failure and death,” Dr Singh said explaining why prenatal tests for thalassemia are important.