HYDERABAD: Thalassemia is a genetic blood disorder in which a patient cannot make enough Red Blood Cells and needs to be supplemented with RBC transfusions every 2-3 weeks to stay healthy and to survive. One of the common symptoms of the disorder is anaemia. A patient might have minor, moderate or major thalassemia according to the genes affected.
Dr Pravas Chandra Mishra, director-Haemotology, Max Hospital, says: “The biggest challenge that thalassemia patients face today is the lack of safe blood transfusion facilities. They run the risk of life threatening viral infections. The only cure is a bone marrow transplant (BMT) which is beyond the reach of most patients. The government and CSR initiatives by PSUs are trying their bit towards providing finances for BMT in selected cases. We must make it mandatory to test for haemoglobin HPLC in the population to identify persons at risk of transmitting the abnormal gene.”
Urgent need for genetic screening
The available treatments for Thalassemia Major place a huge economic burden on patients. The cost of supportive care and management of a child with thalassemia major is estimated at Rs 1,00000- 2,50,000 per year depending on the age and presence of complications. Cost of a bone marrow transplant (BMT) is estimated to be Rs 14-Rs 15 lakh, according to the union ministry statistics. Also, getting a match for BMT is very difficult. Therefore, the best cure for thalassemia is prevention through genetic screening.
Dr Prajnya Ranganath, associate professor and head, department of medical genetics in NIMS, says: “What we generally do here is secondary prevention where the parents come to us for carrier screening only after one child is born with Thalassemia. But, ideally, there should be general population screening so that such births can be prevented. The carrier screening test is a simple and inexpensive test called the Haemoglobin Electrophoresis which can be done at most biochemistry labs. The awareness about this disorder is high in cities, but low in rural areas.”
Explaining how the disorder is inherited, she says: “Thalassemia follows an autosomal recessive pattern of inheritance, which means that both parents are carriers of the defective gene. When both are carriers, there is a 25% chance for each child of the carrier couple to be affected. All children of a carrier couple are not going to be affected. Also, a child is not going to be affected if one of the parents is a carrier.”
“There are three stages at which a couple can undergo screening - pre-marriage, post-marriage but pre-conception, and first trimester of pregnancy. Unfortunately, in India, there is a lot of stigma attached to pre-marital genetic screening. It has been made mandatory in many Mediterranean countries,” adds the doctor.
Throwing light on the patients, she says: “We get at least five couples per month who come here for screening after they already have an affected child. They come from Telangana, Andhra Pradesh, Karnataka and Maharashtra. We did prenatal testing for seven cases in March and eight cases in April for couples with previous children with Beta-Thalassemia.”
Concerns during blood transfusions
Mrs Shobha Tuli, secretary, Thalassemics India, says: “The availability and safety of blood are important for thalassemia major patients. Gynaecologists should make couples undergo the test for Thalassemia when they prescribe other tests, so that no one is born with Thalassemia Major. The more aware the public is about thalassemia, the more likely they are to take this test.”
Things to look out for during blood transfusions
Patients should not be asked to replace blood. This is the practice in many states in India in which patients are asked to replace the blood they are receiving. Thalassemia patients should be given blood on demand as per requirement when their mean haemoglobin is 9.5.
Patients should not be offered whole blood. The facility to provide packed blood should be there in every hospital of the country.
Since the patients are on repeated blood transfusions, they are susceptible to contracting infections and other antibodies. So they require either bedside filtered blood or pre-storage filtered blood. The latter is ideal for these patients.
Most of the hospitals in our country test the blood for hepatitis, HIV and malaria. But the blood should also be NAT tested.
The right chelation medicines should be available in hospitals. Due to repeated blood transfusions, iron gets accumulated in the bodies of Thalassemia patients. The extra iron is taken out using iron chelation medicines.
(As told by Shobha Tuli, secretary, Thalassemics India)
According to the Union ministry of health and family welfare, India has the largest number of children with Thalassemia Major in the world – about 150,000. There are almost 42 million carriers of beta-thalassemia trait. While an average prevalence rate of 3-4% has been established across the country, a higher frequency has been observed in certain communities, such as Sindhis, Punjabis, Gujaratis, Bengalis, Mahars, Kolis, Saraswats, Lohanas and Gaurs. An estimated 10,000 -15,000 babies with Thalassemia Major are born every year.