Experts call for increasing prenatal screening to prevent thalassaemia
IANS May 09, 2023
Prenatal screening is of utmost importance to prevent thalassaemia, a blood disorder, said doctors calling on the need to increase screening.
Thalassaemia is an inherited blood disorder transmitted from both parents to children, resulting in reduced haemoglobin, due to which the body's red blood cells, which carry oxygen to all the cells of the body, are not able to function properly. This leads to anaemia, which makes the patient feel tired or short of breath.
Severe anaemia can damage the organs of the body. Additionally, repeated blood transfusions lead to iron overload, which can cause organ damage, if not managed adequately.
India has the largest number of children with thalassaemia major in the world about 1-1.5 lakhs. About 10,000-15,000 children having thalassaemia are born every year in the country, accounting for 10 per cent of the total world incidence.
With early prenatal screening and detection, it is possible to diagnose a congenital defect as early as possible during pregnancy.
"Avoiding the birth of a thalassemic child is the only feasible solution to the challenge of thalassaemia facing society today. When a woman is pregnant, she should be screened for this disease. If she is found to be a carrier, the husband should also be tested," said Dr (Prof) Pravas Mishra, Head, Haematology & BMT, Amrita Hospital, Faridabad.
"If both are found positive, then a test is required on the unborn foetus. If the foetus is found to be affected, then the parents can consider the option of abortion and avoid the birth of a thalassaemic child," he added.
Since thalassaemia is a genetically transmitted disease, the child would either be thalassaemic or a carrier. A carrier child doesn't suffer from the disease. A recent study conducted by the National Health Mission (NHM) stated that about 42 million people in India are silent carriers of the condition.
While thalassaemia is curable via stem-cell transplant, the costs involved are very high, about Rs 12-15 lakh. In addition, finding a matching donor is also a burden for families.
"Thalassaemia major is a preventable illness, thus more efforts and awareness is required to help people understand the ways of preventing thalassaemia. Having said this, there are a large number of kids who continue to suffer from thalassaemia with a huge psychological and financial burden leading to poor quality of life and decreased life expectancy," said Dr Gaurav Kharya, Advisor, Bone Marrow Transplant & Cellular Therapy at Indraprastha Apollo Hospital, New Delhi.
"Just like being preventable, for kids affected with thalassaemia major, it is very much a curable disease by offering a bone marrow transplant using either hla identical or haploidentical donor," he added.
However, Dr Mishra said a matching donor is found within the patient's family only in 25-30 per cent of the cases.
"The rest of the patients have to wait to find an unrelated donor. The ideal time for undergoing a stem cell transplant is before the patient enters their teenage. In later years, there is a risk of suboptimal responses due to iron overload in the body," he noted.
Thalassaemia patients also need repeated blood transfusions, sometimes quite frequently, in a month. Getting good quality blood, and as often as required, is a big challenge for them.
Although several thalassaemia societies exist today and try to help patients by connecting them with local blood banks and government medical colleges to get free blood transfusions, this, however, remains inaccessible for most patients.
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