Living with Thalassemia: Understanding and managing this genetic blood ailment

Managing Thalassemia is expensive. Image courtesy News18

Thalassemia, a genetic blood ailment, is one of the most common inherited blood disorders in our country. It is characterised by defective haemoglobin synthesis and red blood cell (RBC) production; hence frequent blood transfusions are an inseparable part of a Thalassemic. With an estimated 42 million carriers of beta-thalassemia and 10,000 new cases diagnosed every year, one in eight patients affected with Thalassemia resides in India. The number also appears to be high in children and adolescents. Among the 27 million births taking place each year, it has been estimated that there would be more than 10,000 kids with thalassemia major, which is preventable.

Due to abnormalities in the blood chains, there are two forms of thalassemia: alpha thalassemia and beta thalassemia. When thalassemia is referred to as “alpha” or “beta,” it refers to the non-existent portion of the haemoglobin. If either the alpha or beta component is missing, the remaining components are insufficient to produce appropriate levels of haemoglobin in the body. Beta thalassemia is an inherited blood disorder characterised by reduced levels of functional haemoglobin. To describe the severity of thalassemia, it is categorised as minor, intermedia, and major. These labels describe a spectrum in which possessing a thalassemia trait may result in moderate anaemic symptoms or none at all. Thalassemia major is the most serious form and usually requires regular treatment.

Despite the alarming increase, preventive and awareness initiatives remain few in India. One of the reasons why many Indians, particularly children, go misdiagnosed for so long is a lack of awareness about the disease. Many thalassemia carriers are unaware of their status until they “accidentally” transmit the disease-causing gene to their children, who ultimately become infected with life-threatening conditions like HIV. For a disease with high therapy costs, inadequate knowledge about HIV continues to aggravate the situation in the present day. Therefore, there is an urgent need to implement Nucleic Acid Amplification (NAT) testing for HIV detection in India. The sensitivity and specificity of NAT for viral nucleic acids shorten the infectious window period for HIV, HBV, and HCV. Due to its greater sensitivity and capacity to shorten the window time, NAT is a suggested but optional test for screening of transfusion transmitted infections (TTIs) to reduce the risk of infection, thus making blood transfusions safer.

Blood Centers should not replace the serology screening of TTIs with an alternative test, but instead, use an extra test to ensure better safety for the patients. To safeguard the health of patients with thalassaemia, voluntary blood donors should be chosen carefully, and blood should be collected, processed, stored, and distributed, by dedicated blood transfusion centres with established quality assurance systems in place.

According to the World Health Organization (WHO), a minimum of one percent of the population should donate blood to match a country’s basic requirement of safe blood. Even before the pandemic, India did not achieve this criterion. There is widespread ignorance regarding thalassemia, not only among the public but even among general physicians.

When a child in his or her first year develops severe anaemia, it is common practice to deliver many blood transfusions without attempting or obtaining a diagnosis. Once the patient has been transfused multiple times, the diagnosis becomes a little more difficult since the parents must be tested and genetic tests must be performed. An ecosystem needs to be created in which the individual, in this case, the patient, is at the centre, disease management necessitates a participatory strategy in which stakeholders should take the lead. Unlike in the past, healthcare delivery must be viewed from the patient’s standpoint and this perspective must be maintained throughout.

Therapies for the management of thalassemia are not only expensive but a lifelong process. Therefore, blood sample quality and safety cannot be compromised. India must employ more cutting-edge testing technologies and screening techniques like NAT testing to meet global standards for acceptance and care management. In addition, access to safe, high-quality blood is mandated by disability rights legislation. Furthermore, all the states should establish specialised clinics and counselling centres to focus on Thalassemia management. Gynaecologists, Haematologists, physicians, ASHA workers, pre-marital counsellors, and other stakeholders must work in tandem to develop an ecosystem where safe blood becomes a reality.

The author is Director, Path and Lab Medicine and Head, Hematopathology, Medanta, The Medicity. Views are personal.

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