Understanding and managing this genetic blood ailment

Living with thalassemia: understanding and managing this genetic blood disorder

Thalassemia is expensive to treat. Image courtesy of News18

Thalassemia, a genetic blood disease, is one of the most common hereditary blood diseases in our country. It is characterized by defective hemoglobin synthesis and red blood cell (RBC) production; therefore, frequent blood transfusions are an inseparable part of being a thalasemic. With an estimated 42 million beta thalassemia carriers and 10,000 new cases diagnosed each year, one in eight patients affected by thalassemia lives in India. The number also appears to be high among children and adolescents. Of the 27 million births that take place each year, it is estimated that more than 10,000 children have 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 is referring to the missing portion of hemoglobin. When either the alpha or beta component is absent, the remaining components are insufficient to produce adequate levels of hemoglobin in the body. Beta thalassemia is an inherited blood disorder characterized by decreased levels of functional hemoglobin. To describe the severity of thalassemia, it is categorized as minor, intermediate, and severe. These labels describe a spectrum where the presence of a thalassemia trait can result in moderate anemic symptoms or none at all. Thalassemia major is the most severe form and usually requires regular treatment.

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Despite the alarming rise, there are few prevention and awareness-raising initiatives in India. One of the reasons many Indians, especially children, have been misdiagnosed for so long is a lack of awareness of the disease. Many thalassemia carriers are unaware of their status until they “accidentally” pass the disease-causing gene to their children, who eventually contract life-threatening diseases like HIV. In the case of a disease with high treatment costs, insufficient knowledge about HIV aggravates the situation to this day. Therefore, there is an urgent need to introduce nucleic acid amplification tests (NAT) for HIV detection in India. The sensitivity and specificity of NAT for viral nucleic acids shortens the infection window for HIV, HBV and HCV. Because of its higher sensitivity and ability to shorten the window time, NAT is a recommended but optional test to screen for transfusion-transmitted infections (TTIs) to reduce the risk of infection and make blood transfusions safer.

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Blood centers should not replace serological screening of TTIs with an alternative test, but should instead use an additional test to ensure better patient safety. To protect the health of patients with thalassemia, voluntary blood donors should be carefully selected, and blood should be collected, processed, stored, and distributed by specialized blood transfusion centers with established quality assurance systems.

According to the World Health Organization (WHO), at least one percent of the population should donate blood to meet a country’s basic need for safe blood. Even before the pandemic, India did not meet this criterion. There is widespread ignorance about thalassemia not only among the general public but also among general practitioners.

If a child develops severe anemia in the first year of life, it is common to give many blood transfusions without making or receiving a diagnosis. After the patient has received multiple transfusions, the diagnosis becomes a bit more difficult, since the parents have to be tested and genetic testing has to be done. An ecosystem needs to be created in which the individual, in this case the patient, is central, disease management requires a participatory strategy where stakeholders should take the lead. Unlike in the past, healthcare must be viewed from the patient’s perspective and this perspective must be maintained throughout.

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Therapies to treat thalassemia are not only expensive, but a lifelong process. Therefore, the quality and safety of the blood sample must not be compromised. India needs to adopt 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 laws. In addition, all states should establish specialized clinics and counseling centers focused on thalassemia management. Gynecologists, hematologists, physicians, ASHA staff, premarital counselors, and other stakeholders must work together to develop an ecosystem where safe blood is a reality.

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

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