Beta Thalassemia
Beta Thalassemia is a genetic blood disorder that affects the body's ability to produce hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. This condition is caused by mutations in the HBB gene on chromosome 11, which leads to reduced or absent production of beta-globin, one of the two subunits of hemoglobin. Beta Thalassemia is inherited in an autosomal recessive pattern, meaning a person must inherit two mutated genes (one from each parent) to be affected by the condition.
There are several forms of Beta Thalassemia, ranging from mild to severe, based on the mutations' effects on hemoglobin production. The mildest form is known as Beta Thalassemia minor or Beta Thalassemia trait, where individuals often experience little to no symptoms and may not even be aware they carry the gene mutation. More severe forms include Beta Thalassemia intermedia and Beta Thalassemia major, also known as Cooley's anemia. Symptoms of these more severe forms can include chronic fatigue, weakness, pale or yellowish skin (jaundice), facial bone deformities, slow growth, and abdominal swelling due to liver and spleen enlargement. These symptoms are mainly due to the body's attempt to compensate for the lack of healthy red blood cells, leading to an overproduction of ineffective ones and the subsequent accumulation of iron in the body, which can damage organs.
The diagnosis of Beta Thalassemia typically involves blood tests that measure the levels and types of hemoglobin in the blood, along with genetic testing to identify mutations in the HBB gene. Treatment varies depending on the severity of the condition. For Beta Thalassemia minor, often no treatment is required, though individuals should be aware of their carrier status, especially when planning a family, as there is a risk of passing the condition to their children. More severe forms may require regular blood transfusions to maintain healthy hemoglobin levels, iron chelation therapy to remove excess iron from the body, and, in some cases, a bone marrow or stem cell transplant, which can offer a potential cure by replacing the faulty cells with healthy ones from a compatible donor.
Living with Beta Thalassemia, especially the more severe forms, can be challenging, requiring ongoing medical care and lifestyle adjustments to manage symptoms and prevent complications. However, with proper treatment and support, many people with the condition lead full and active lives. Advances in medical research continue to improve the outlook for individuals with Beta Thalassemia, offering hope for more effective treatments and potentially a cure in the future.
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