Thalassemia is caused by inherited genetic mutations that affect the production of hemoglobin, a crucial protein in red blood cells.
Understanding Thalassemia's Cause
Thalassemia is not contagious; it's passed down from parents to their children through their genes. Specifically, the condition arises when there are mutations or deletions in the genes responsible for producing globin chains, which are components of hemoglobin. Hemoglobin consists of alpha and beta globin chains. Different types of thalassemia correspond to deficiencies in different globin chains.
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Alpha-thalassemia: Caused by mutations affecting the genes that produce alpha globin. The severity depends on how many genes are affected.
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Beta-thalassemia: Caused by mutations affecting the genes that produce beta globin. The severity depends on the specific mutation(s) inherited.
How Inheritance Works
To develop thalassemia, a person typically needs to inherit the faulty gene(s) from both parents (though in some forms, inheriting just one copy leads to the "trait" and potentially mild symptoms). If a person inherits a faulty gene from only one parent, they are usually a "carrier" of thalassemia. Carriers often don't have symptoms but can pass the gene on to their children.
Hemoglobin and Its Importance
Hemoglobin is essential because it's the protein in red blood cells that carries oxygen throughout the body. When the body can't produce enough hemoglobin due to thalassemia-related gene mutations, it leads to anemia, meaning the body's tissues don't get enough oxygen. This can result in fatigue, weakness, and other health problems.
In Summary
Thalassemia is an inherited genetic disorder where the body does not produce enough hemoglobin due to mutations in genes that control globin chain production. This deficiency in hemoglobin leads to anemia and related health complications.
