Understanding and managing this genetic blood ailment


Living with Thalassemia: Understanding and managing hereditary blood disease

Thalassemia treatment is expensive. Image courtesy News18

Thalassemia, one of the hereditary blood diseases, 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; Hence frequent blood transfusions are an integral part of thalassemia. With an estimated 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. Of the 27 million births that occur each year, it is estimated that more than 10,000 children will have thalassemia major, which is preventable.

Due to abnormalities in the blood chains, there are two types of thalassemia: alpha thalassemia and beta thalassemia. When thalassemia is referred to as “alpha” or “beta,” it refers to the non-existent portion of hemoglobin. If an alpha or beta component is missing, the remaining components are insufficient to produce adequate levels of hemoglobin in the body. Beta thalassemia is an inherited blood disorder characterized by low levels of functional hemoglobin. To describe the severity of thalassemia, it is classified as minor, intermediate, and major. These labels describe the spectrum in which thalassemia trait may cause mild or no symptoms of anemia. Thalassemia major is the most severe form and usually requires regular treatment.

Despite the alarming increase, prevention and awareness initiatives are still few in India. One of the reasons why many Indians, especially children, have been misdiagnosing for so long is the lack of awareness of the disease. Many thalassemia carriers are not aware of their condition until they “accidentally” pass the disease-causing gene to their children, who eventually develop life-threatening conditions such as HIV. For a disease with high treatment costs, insufficient knowledge about HIV continues to exacerbate the situation at present. Therefore, there is an urgent need to implement a nucleic acid amplification test (NAT) for the detection of HIV in India. The sensitivity and specificity of NAT to viral nucleic acids shortens the infection period for HIV, hepatitis C virus and hepatitis C virus. Due to its greater sensitivity and ability to shorten the window time, NAT is a suggested but optional test to screen for transfusion-borne infections (TTIs) to reduce the risk of infection and, thus, make blood transfusions safer.

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

According to the World Health Organization (WHO), at least one percent of the population must donate blood in proportion to the country’s basic requirements for safe blood. Even before the pandemic, India had not met this standard. There is widespread ignorance regarding thalassemia, not only among the public but even among general practitioners.

When a baby in his first year has severe anemia, it’s common to have several blood transfusions without trying or getting a diagnosis. Once a patient has been transfused multiple times, the diagnosis becomes more difficult as the parents must be tested and genetic testing done. An ecosystem must be created in which the individual, in this case, the patient, is at the center, and disease management requires a participatory strategy in which stakeholders must take the lead. Unlike in the past, healthcare delivery must be viewed from the patient’s point of view and that perspective must be maintained throughout.

Thalassemia management treatments are not only expensive, but a lifelong process. Therefore, the quality and safety of blood samples cannot be compromised. India must use more advanced testing techniques and screening technologies like NAT to meet the global standards of Admissions and Sponsorship Management. In addition, access to safe, high-quality blood is a given under PWD legislation. Furthermore, all states should establish specialty clinics and counseling centers to focus on thalassemia management. Gynecologists, hematologists, physicians, ASHA workers, premarital counselors and other stakeholders must work hand in hand to develop an ecosystem where safe blood becomes a reality.

The author is Director of Pathology and Laboratory Medicine and Head of the Department of Hematology, Medanta, Medicine. Opinions are personal.

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