Jackie Shroff urges couples to get tested for thalassemia before planning pregnancy. Here’s why (Image credits: Instagram)
Bollywood actor Jackie Shroff is raising awareness about thalassemiaa serious blood disorder. In a recent conversation with YouTuber Ranveer AllahbadiaShroff stressed the importance of understanding and discussing thalassemia, particularly before planning a pregnancy. “It is essential to be aware of thalassemia,” Shroff said. “Everyone should get tested. If both parents have thalassemia minor, there is a risk of having a child with thalassemia major, which means the child would need a blood transfusion every 15 days for life.” But what is thalassemia? How does it occur? Let’s find out!
What is thalassemia?
Thalassemia is a genetic blood disorder that is passed down through families. It occurs when the body cannot produce enough hemoglobin, an essential protein found in red blood cells. Without enough hemoglobin, red blood cells cannot function properly and have a shorter lifespan, resulting in a reduction in the number of healthy red blood cells in the bloodstream.
Red blood cells are responsible for delivering oxygen to all the cells in the body, which they rely on to function. When there are not enough healthy red blood cells, less oxygen reaches the body’s cells, causing symptoms such as fatigue, weakness, and shortness of breath. This condition is known as anemia, which can range from mild to severe in people with thalassemia. Severe anemia can lead to organ damage and, in extreme cases, can be life-threatening.
Types of Thalassemia
Thalassemia is caused by mutations in the genes responsible for the production of hemoglobin. These mutations are inherited from parents and result in the reduction or absence of one of the hemoglobin chains: alpha or beta. Depending on which hemoglobin chain is affected, thalassemia is classified into two main types: alpha-thalassemia and beta-thalassemia.
Alpha-thalassemia: This occurs when the alpha-globin gene is affected. People with one or more mutated genes may have a mild form of the disease, while those with mutations in all four genes usually have a more severe form of the disease.
Beta thalassemia: This is the result of mutations in the beta-globin gene. Depending on the number of mutated genes inherited, it can result in thalassemia minor (one mutated gene) or thalassemia major (two mutated genes), the latter being the most severe form of the disorder.
Symptoms of thalassemia
People with thalassemia minor may experience few or no symptoms and often lead normal lives. However, those with thalassemia major or other severe forms of the disorder may experience a variety of symptoms, including:
Severe anemia: Causes fatigue, weakness and difficulty breathing due to lack of oxygen in the blood.
Pale or yellowish skin: Resulting from the breakdown of red blood cells.
Growth retardation: In children, due to the body’s inability to produce enough healthy red blood cells.
Bone deformities: particularly in the face and skull, as bone marrow expands in response to the body’s attempt to produce more red blood cells.
Enlarged spleen: caused by the accumulation of damaged red blood cells.
Frequent infections: Due to the weakened immune system associated with anemia.
Diagnosis of thalassemia
Thalassemia is usually diagnosed through a combination of blood tests and genetic testing.
– Complete blood count (CBC): This test measures hemoglobin levels and the number of red blood cells, which helps identify anemia.
– Hemoglobin electrophoresis: Used to analyze the different types of hemoglobin present in the blood and detect abnormal forms.
– Genetic testing: confirms the diagnosis by identifying mutations in the alpha or beta-globin genes. This is particularly useful for determining the carrier status of parents and assessing the risk of transmitting the disease to offspring.
– Prenatal testing: For parents-to-be, prenatal testing can determine if the fetus has thalassemia, allowing for early intervention if necessary.
Treatment of thalassemia
Treatment for thalassemia depends on the type and severity of the disorder. While mild thalassemia usually requires no treatment, more severe forms require ongoing medical care.
– Regular blood transfusions: The main treatment for people with severe thalassemia (such as thalassemia major) is regular blood transfusions, which help maintain healthy levels of red blood cells and hemoglobin. These transfusions are usually needed every two to four weeks.
– Iron chelation therapy: Frequent blood transfusions can cause excess iron in the body, which can damage organs. Iron chelation therapy helps remove this excess iron to prevent complications.
– Folic acid supplements: Folic acid is often prescribed to help stimulate red blood cell production.
– Bone marrow or stem cell transplant: In some cases, a bone marrow or stem cell transplant may be considered. This procedure, which involves replacing defective bone marrow with healthy marrow from a donor, is currently the only potential cure for thalassemia. However, it is not suitable for all patients due to the risks involved.
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