Living with Thalassemia: Understanding and managing this genetic blood ailment

Living with thalassemia: understanding and managing this genetic blood disorder

Treating thalassemia is expensive. Image courtesy of News18

Thalassemia, a genetic blood disorder, is one of the most common inherited blood disorders in our country. It is characterized by defective hemoglobin synthesis and red blood cell (RBC) production; therefore, frequent blood transfusions are an integral part of thalassemia. With around 42 million carriers of beta thalassemia and 10,000 new cases diagnosed every year, one in eight patients with thalassemia resides in India. The number also seems to be high in children and adolescents. Among the 27 million births that take place each year, it is estimated that there are 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 part of hemoglobin. If the alpha or beta component is missing, the remaining components are insufficient to produce proper 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 possession of a trait of thalassemia may result in moderate or no anemic symptoms. Thalassemia major is the most serious 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 the lack of awareness of the disease. Many carriers of thalassemia are unaware of their status until they “accidentally” pass on the disease-causing gene to their children, who eventually become infected with life-threatening diseases like HIV. For a disease with high treatment costs, insufficient knowledge of HIV continues to worsen the situation today. Therefore, there is an urgent need to implement Nucleic Acid Amplification Test (NAT) for HIV detection in India. The sensitivity and specificity of NAT for viral nucleic acids shortens the infectious window period for HIV, HBV and HCV. Due to its greater sensitivity and ability to shorten the time window, NAT is a suggested but optional test for screening for transfusion-transmitted infections (TTIs) to reduce the risk of infection, thus making blood transfusions safer.

Blood centers should not replace serological screening for TTIs with an alternative test, but rather use an additional test to ensure better patient safety. To protect the health of patients with thalassemia, voluntary blood donors should be chosen carefully and blood should be collected, processed, stored and distributed by dedicated blood 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 requirements for safe blood. Even before the pandemic, India did not meet this benchmark. There is widespread misunderstanding of thalassemia, not only among the public but even among general practitioners.

When a child in their first year develops severe anemia, it is common to administer numerous blood transfusions without attempting or obtaining a diagnosis. Once the patient has been transfused several times, the diagnosis becomes a bit more difficult since the relatives 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 the stakeholders must take the lead. Unlike in the past, health care delivery must be viewed from the perspective of the patient and this perspective must be maintained throughout.

Therapies for the management of thalassemia are not only expensive, but a lifelong process. Therefore, the quality and safety of blood samples cannot be compromised. India needs to use more cutting-edge testing technologies and screening techniques like NAT tests to meet global standards for acceptance and care management. Additionally, access to safe, high-quality blood is mandated by disability rights legislation. In addition, all states should establish specialty clinics and counseling centers to focus on the management of thalassemia. Gynecologists, hematologists, physicians, ASHA workers, premarital counselors 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 chief, Hematopathology, Medanta, The Medicity. Views are personal.

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