Why you should be aware of thalassemia

Inusha Panigrahi

THALASSEMIA is an inherited blood disorder in which the blood haemoglobin (Hb) level is low due to mutations in mostly the beta-globin gene. In its most severe form, it is known as ‘thalassemia major’, in which there is a rapid fall in Hb levels after birth. The baby presents with paleness and increase in liver and spleen size and low Hb levels. Symptoms include paleness, poor appetite, decreased activity and abdominal distension. It’s a treatable disease where the patient needs regular blood transfusions at least twice a month or a bone marrow transplant from a matched donor, usually a sibling.

A less severe form of the disorder is thalassemia minor. When a child is diagnosed with thalassemia major, that means both parents are thalassemia carriers or have thalassemia minor.

Dealing with it

The patient needs one to two packets of blood usually every 15-30 days. This increases the iron load of the body. Iron chelation therapy is a must for thalassemia patients. It removes excess iron and is usually given orally two to three times a day or as subcutaneous infusions three to five times a week, depending on the serum ferratin levels that should always remain below 1,000. Otherwise, iron accumulates in organs like heart, liver and endocrine glands like thyroid and causes damage and complications. The problems include swelling of body, lethargy, puffiness of face, constipation, increased weight gain, and muscle cramps.

Patients must also ensure that blood for transfusions should always be from a registered blood bank or a known donor, as blood from unknown sources can raise the risk of blood-borne infections like hepatitis B, hepatitis C and HIV.

Other risks include indigestion, weakness, jaundice, increased risk of infections. Regular monitoring of serum ferritin is a must as high levels, a marker of iron overload, can land the patient in hospital with increased heart rate, decreased activity and heart failure. Periodic follow-up and monitoring is crucial.

Cost of treatment

The most common curative therapy for thalassemia is bone marrow transplant (BMT). The cost can vary between Rs 10 lakh and Rs 70 lakh, depending on whether it is done in a government or private hospital and who is the donor, a sibling or matched unrelated donor. If a sibling donor is not available, then the donor can be searched from the Marrow Donor Registry India or through other sources, in consultation with the BMT centre. The best results are when BMT is done early at the age of 10 to 12 years. However, some hospitals also do this treatment for older patients. A new form of therapy called ‘gene therapy’is being done in some private hospitals. But it is quite expensive, the availability is limited and it is usually not recommended in India.

Thalassemia is an easily identifiable genetic disorder. Prevention of births of affected children is possible by timely prenatal diagnosis or testing of the unborn baby. Since the frequency of carrier state is high in some ethnic groups (i.e. Sindhis, Lohanas, Bhanusalis), routine thalassemia screening should be done in these groups. If both parents are carriers for beta-thalassemia, then the risk of the baby being affected with thalassemia major would be 25 per cent in every pregnancy. An invasive testing between 11-20 weeks of pregnancy by an experienced doctor is the only solution. As per the report, abortion can be done within 24 weeks of pregnancy at any authorised hospital or clinic as per Indian MTP laws/PNDT Act.

Life with frequent blood transfusions

Alka Chaudhary (pic) was three months old when she was diagnosed with thalassemia major in 1983 at PGI, Chandigarh. A falling Hb, jaundice and a pale skin made the doctors test her for thalassemia. She has been receiving regular blood transfusions ever since. It used to be a packet of blood every month initially that soon went up to two packets every 15 days as she grew up. If that was not enough, she has a rare blood group A2b+ (a subgroup of AB+). “In the beginning, finding a donor was difficult. Things have become better now,” says the gutsy girl.

Her condition never became a handicap. Alka has represented Chandigarh in the Sub-Junior Ball Badminton Championship many times. No wonder the spirited young woman has become the poster woman for PGI’s thalassemia awareness campaigns.

Alka, a programme assistant at Regional Organ & Tissue Transplant Organisation Chandigarh at PGI, has also been actively working with the Chandigarh Thalassemia Society to create awareness as well as help other patients. She was awarded the National Award for the Empowerment of Persons with Disabilities in 2019 for her work with the advocacy group.

“During the lockdown, we helped many patients in finding donors for even those stranded in other states. We were able to connect many patients with registered blood banks wherever they were stuck.”

Alka also regularly counsels other thalassemia patients as well as their parents at PGI. She also travels with PGI doctors’ team across states for health camps. “Much needs to done, as even nearly 40 years after my birth there is still not much awareness,”says Alka.

— The writer is Head, Genetic Metabolic Unit, Department of Paediatrics, APC, PGIMER, Chandigarh

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