World Thalassemia Day, observed on May 8th, raises awareness about thalassemia, a genetic blood disorder characterized by abnormal hemoglobin production.The day aims to educate the public about prevention, treatment, and support for individuals living with thalassemia, emphasizing the importance of genetic testing and access to quality healthcare.
What is Thalassemia??
Thalassemia encompasses a group of genetic blood disorders characterized by abnormal hemoglobin production, leading to reduced red blood cell count and anemia. This condition predominantly affects individuals of Southeast Asian descent. It manifests in two main types: alpha thalassemia and beta thalassemia, each with varying degrees of severity.
Manifestation and prone populations
Thalassemia’s clinical presentation varies widely, ranging from mild anemia to life-threatening complications such as organ damage and failure. Patients may experience fatigue, weakness, shortness of breath, pale skin, jaundice, and bone deformities. Severe cases can lead to growth retardation, enlarged spleen, and an increased risk of infections.
Certain populations are more predisposed to thalassemia due to genetic factors. Individuals with a family history of the condition are at higher risks. Additionally, intermarriage within communities carrying the thalassemia gene amplifies the likelihood of offspring inheriting the disorder.
Prevention and precautions
Preventing thalassemia necessitates a multifaceted approach encompassing genetic counseling, carrier screening, and prenatal testing.
Education plays a pivotal role in empowering individuals to make informed decisions regarding family planning.
Screening programs enable early detection of carriers, facilitating intervention and counseling to mitigate the risk of transmission to offspring.
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For individuals diagnosed with thalassemia, comprehensive care is imperative to optimize outcomes and enhance quality of life. Regular monitoring, blood transfusions, iron chelation therapy, and, in select cases, bone marrow transplantation form the cornerstone of management. Moreover, supportive measures such as nutritional supplementation and psychosocial support are integral components of holistic care.
By encouraging awareness, promoting genetic screening, and embracing a collaborative approach to care, we can strive towards better outcomes and improved quality of life for thalassemia patients and their families.
(Author: Dr Priti Mehta – Consultant Paediatric Haematology, Oncology and BMT, SRCC Children’s Hospital)