Thalassemia: Causes & Types

Thalassemia is an inherited blood disorder that affects the production of Red blood cells containing the protein hemoglobin, which transports oxygen throughout the body. There are two main types of thalassemia: alpha thalassemia and beta thalassemia.

The main cause of thalassemia is a genetic mutation in the genes responsible for the production of hemoglobin. This mutation leads to a reduction in the amount of functional hemoglobin produced, leading to anemia. Thalassemia is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Alpha thalassemia occurs when there is a mutation in one or more of the four genes responsible for producing the alpha globin subunit of hemoglobin. Beta thalassemia occurs when there is a mutation in the gene responsible for producing the beta-globin subunit of hemoglobin.

Thalassemia can also occur as a result of the deletion of a gene. A deletion of one or more of the alpha or beta globin genes can result in a reduction in the production of the corresponding globin subunit, leading to thalassemia.

Thalassemia is most common in people of Mediterranean, African, or Southeast Asian descent, but it can affect people of any race or ethnicity. It is estimated that thalassemia affects about 100,000 people in the United States and millions of people worldwide.

The severity of thalassemia can vary widely depending on the type and specific genetic mutation involved. Some people with thalassemia have only mild anemia, while others may have severe anemia requiring regular blood transfusions.

In conclusion, Thalassemia is a genetic disorder that affects the production of hemoglobin, caused by mutations in the genes responsible for the production of alpha or beta globin subunit of hemoglobin, inherited in an autosomal recessive pattern, most common in people of Mediterranean, African, or Southeast Asian descent, it can affect people of any race or ethnicity and its severity can vary widely depending on the type and specific genetic mutation involved.

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