Editorial Team
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Repeated blood transfusions is the only solution for children affected by Thalassaemia.
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. The child had distinct pale skin, was experiencing feeding problems, showed irritability and felt feverish now and then. Her symptoms prompted the doctors to recommend blood tests such as the complete blood count (CBC) and a peripheral smear. The test results were picture-consistent with Thalassaemia, an inherited blood disorder that affects the production of haemoglobin and healthy red blood cells.
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 (Thalassaemia minor) of the disease. The couple had no history of pre-marital or pre-natal testing which could have been a savior 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 and if left untreated, there can be several complications.
Thalassaemia is an inherited blood disorder characterised by decreased or absent synthesis of globin chain, resulting in reduced haemoglobin. RBCs produced by these faulty genes breakdown easily in the bone marrow right before they are released in the blood (ineffective erythropoiesis) as well as in spleen, which leads to an increase in the size of the spleen, destroying more RBCs. Hence, the combination of ineffective erythropoiesis and larger spleen leads to severe anaemia and symptoms of thalassaemia.
This directly impacts the bone marrow which overworks 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 like -
Children affected by Thalassaemia might require life-long blood transfusions. However, repeated transfusions also pose a complexity which is 'iron overload'. This can damage the heart and other vital organs of the body. As a result, the patient will require life-long chelation (removal of excessive iron) which might not be adequate at times.
Let's look at a few complications -
Bone marrow transplant from related (matched or mismatched) or unrelated donor is being recognised as an effective treatment in severe cases of the disease. Nowadays, even if we don't have a 100% HLA matched donor in the family or in a donor registry, even a 50% HLA matched donor can be taken up for transplant and is termed as Haploidentical Bone Marrow Transplant. Even a Thalassaemia minor can be a donor based on the HLA reports. Donor donation of hematopoietic stem cells for BMT is usually not likely to cause issues for the donor.
Thalassaemia is a hereditary disease that cannot be prevented with medicines or vaccination. The only way by which this disease can be prevented is by knowing the carrier status of the young child bearing couples which can be confirmed by a simple blood test, Hb-HPLC Test.
If both the parents are carriers, they can go for prenatal diagnosis after conceiving pregnancy, by doing chorionic villus sampling of developing fetus. These affected couples can also opt for IVF with pre-implantation genetic diagnosis.
People with no symptoms of the disease may not realise that they are carriers until they have a child with Thalassaemia. Hence, the need for pre-marital or pre-natal testing becomes imperative for couples soon going to be married or planning a pregnancy.
(This article is co-authored by Dr. Satyendra Katewa, Director & HOD, Blood & Marrow Transplant, Cellular Therapy & Paediatric Hemato-Oncology, and Dr Ankit Kumar, HOD and Consultant, Blood & Marrow Transplant, SHALBY Sanar International Hospitals, Gurugram)