Thalassemia

Thalassemia is a group of hereditary disease which is the result of an imbalance making one of the four amino acid chains that form hemoglobin.

CAUSE
Imbalances in the chain of alpha and beta globin protein, which is necessary in the formation of hemoglobin, caused by an inherited defective gene.
To suffer from this disease, a person must have two genes from both parents.
If only one gene is inherited, then the person is only a carrier but does not show the symptoms of this disease.

Thalassemia Based on amino acid chains are classified as affected.
2 species are alpha-thalassemia major (involving a chain alpha) and beta-thalassemia (involving the beta chain).

Thalassemia are also classified based on whether someone has a defective gene (thalassemia minor) or two defective genes (thalassemia major).

Alpha-thalassemia most often found in black people (25% minimum carrying a gene), and beta-thalassemia on the people in the Mediterranean region and Southeast Asia.

One gene for beta-thalassemia causes mild anemia to moderate without causing symptoms; 2 gene causes severe anemia symptoms.
Approximately 10% of people who have at least one gene for alpha-thalassemia is also suffering from mild anemia.

SYMPTOMS
All thalassemia have similar symptoms, but severity varied.
Most patients experienced a mild anemia.

In more severe forms, such as beta-thalassemia major, can occur jaundice (jaundice), an open wound in the skin (ulcers, ulcers), gallstones and enlarged spleen.

Overactive bone marrow can cause thickening and enlargement of bones, especially the head and face.
The long bones become weak and easily broken.

Children who suffer from thalassemia will grow more slowly and reach puberty later than other normal children.

Because of increased iron absorption and undergo frequent transfusions, the excess iron could be collected and settled in the heart muscle, which in turn can lead to heart failure.