Understanding thalassaemia: Early screening and prevention
India, May 11 -- Thalassaemia is a genetic blood disorder that affects nearly 1% of the Indian population often without any immediate symptoms. Though it's an inherited disease, most carriers (usually minors) will not have visible disease but any member in the family could be affected and lead to serious health problems. Early screening and awareness are crucial in managing and preventing the condition.
Thalassaemia is an inherited condition that impairs the body's ability to produce normal red blood cells, essential for oxygen transportation. When red blood cells are low or abnormal, it leads to anaemia- a condition where the body doesn't get enough oxygen, causing fatigue, weakness and further complications, if untreated.
There are two main types of thalassaemia: alpha and beta, depending on which part of the haemoglobin (the oxygen-carrying protein in red blood cells) is affected.
Some people are silent carriers and may never show symptoms but can pass the gene to their children. Symptoms can vary on severity, but common signs include pale skin, tiredness, delayed growth in children and frequent infections.
Managing thalassaemia in transfusion-dependent cases often involves regular blood transfusions to maintain healthy red blood cell levels. Over time, excess iron can accumulate in the body, which may require chelation therapy to help remove it. In some cases, a bone marrow transplant (BMT) may offer a potential cure, especially in younger patients. New treatments and gene therapies are currently being researched and developed which will offer hope for more permanent solutions in the future.
The most powerful tool against thalassaemia is prevention. Simple blood tests can identify carrier status, making premarital and prenatal screening essential - especially for couples with a family history of the disease. If partners are carriers of thalassaemia, there is a 25% probability that their child may be a thalassemia major.
Genetic counselling assists families in comprehending potential risks and empowers them to make well-informed decisions about their health. This knowledge can prevent a lifetime of challenges for a child.
Thalassaemia is a chronic condition, but it doesn't have to limit your potential or quality of life. With awareness, early screening and community support, we can reduce its impact. Talk to your doctor about getting screened - especially if thalassaemia runs in your family. If there is a transfusion dependent Thalassaemia child, ask your doctor for curative therapy like BMT or gene therapy. Let's build a healthier, more informed tomorrow - together....
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