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about Thalassmia

What is Thalassemia ?

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a disorder in which your body doesn't have enough normal, healthy red blood cells (RBC).
This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. It is caused by either a genetic mutation, or a deletion of certain key genes.
The two main forms of thalassemia are alpha thalassemia and beta thalassemia. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones affected.
Each of these two forms of thalassemia has several distinct types. The exact form you have will affect the severity of your symptoms and your prognosis.

What Are the Symptoms of Thalassemia?

The symptoms of thalassemia depend on which type you have.

Thalassemia minor

Thalassemia minor usually does not cause any symptoms. If it does, it causes only minor anemia.

Beta thalassemia

Beta thalassemia comes in two serious types: thalassemia major (also called Cooley's anemia) and thalassemia intermedia. The symptoms of thalassemia major (Cooley's anemia) generally appear before a child's second birthday. The severe anemia related to this condition can be life-threatening. Other symptoms include:
frequent infections
poor appetite
failure to thrive
jaundice (yellowing of the skin and whites of the eyes)
enlarged organs
This form of thalassemia is usually so severe that it requires regular blood transfusions. Thalassemia intermedia is a less severe form of beta thalassemia. While people with this condition still have anemia, they do not need blood transfusions.

Alpha thalassemia

Alpha thalassemia also has two serious types: hemoglobin H disease and hydrops fetalis. Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. In addition to the bone issues and the anemia associated with any kind of thalassemia, hemoglobin H disease can cause these other symptoms:
1. jaundice
2. extremely enlarged spleen
3. malnourishment
Hydrops fetalis is an extremely severe form of thalassemia. It occurs before birth, and most individuals with this condition are either stillborn or die shortly after being born.