Managing thalassemia is expensive. Image courtesy of News18
Thalassemia, a genetic adjuvant of the blood, is one of the most common inherited 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 a thalassemia. With approximately 42 million carriers of beta-thalassemia and 10,000 new cases diagnosed each year, one in eight patients with thalassemia resides in India. The number also appears to be high in children and adolescents. Among the 27 million births that occur each year, it has been estimated that there would be more than 10,000 children 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 called “alpha” or “beta”, it refers to the non-existent portion of hemoglobin. If the alpha or beta component is missing, the remaining components are insufficient to produce appropriate levels of hemoglobin in the body. Beta thalassemia is an inherited blood disorder characterized by reduced levels of functional hemoglobin. To describe the severity of thalassemia, it is classified as minor, intermediate, and major. These labels describe a spectrum in which possessing a thalassemia trait can cause moderate or no anemic symptoms at all. Thalassemia major is the most severe form and usually requires regular treatment.
Despite the alarming increase, prevention and awareness initiatives remain few in India. One of the reasons why many Indians, especially children, are misdiagnosed for so long is a lack of awareness about the disease. Many thalassemia carriers are unaware of their status until they “accidentally” pass the disease-causing gene to their children, who eventually become infected with life-threatening conditions like HIV. For a disease with high therapeutic costs, inadequate knowledge of HIV continues to aggravate the situation today. Therefore, it is urgent to implement nucleic acid amplification test (NAT) for HIV detection in India. The sensitivity and specificity of NAT for viral nucleic acids reduce the infectious window period for HIV, HBV and HCV. Due to its increased sensitivity and ability to reduce window time, NAT is a suggested but optional test for screening for transfusion-transmitted infections (TTI) to reduce the risk of infection, thus making blood transfusions safer.
Blood centers should not replace TTI serology screening with an alternative test, but instead use an additional test to ensure better patient safety. To safeguard the health of thalassemia patients, volunteer blood donors should be chosen carefully and blood collected, processed, stored and distributed by dedicated transfusion centers with established quality assurance systems in place.
According to the World Health Organization (WHO), at least one percent of the population should donate blood to meet a country’s basic safe blood requirement. Even before the pandemic, India did not meet this criterion. There is widespread ignorance about thalassemia, not only among the public but also among general practitioners.
When a baby in his first year develops severe anemia, it is common practice to give many blood transfusions without trying or getting a diagnosis. Once the patient has been transfused multiple times, the diagnosis becomes a little more difficult as the parents have to be tested and genetic tests have to be done. It is necessary to create an ecosystem in which the individual, in this case the patient, is at the center, the management of the disease requires a participatory strategy in which stakeholders should take the initiative. Unlike in the past, health care delivery must be viewed from the patient’s point of view and this perspective must be maintained all the time.
Treatments to manage thalassemia are not only expensive, they are a life-long process. Therefore, the quality and safety of the blood sample cannot be compromised. India must employ more advanced testing technologies and screening techniques such as NAT testing to meet global standards for care acceptance and management. Furthermore, access to safe and high-quality blood is required by the legislation on the rights of the disabled. Additionally, all states should establish specialized clinics and counseling centers to focus on managing thalassemia. Gynecologists, hematologists, doctors, ASHA practitioners, premarital counselors and other stakeholders must work in tandem to develop an ecosystem where safe blood becomes a reality.
The author is Director, Course and Laboratory of Medicine and Head, Hematopathology, Medanta, Medicine. Opinions are personal.
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