Thalassaemia is one of the chronic inherited anemia, particularly common in people of Mediterranean, African and Southeast Asian origin.
It is a microcytic anemia characterized by a defect in the protein part of the hemoglobin molecule, and ineffective red blood cell production.
Individuals inheriting this disease from both parents can be severely affected, however if only one parent has the disease the offspring are usually symptom free.
The symptoms include severe anemia, jaundice, spleen enlargement, leg ulcers, gall stones and bone marrow hyperactivity. These all result from either an imbalance in the iron levels in the body or the body attempting to produce more red blood cells to compensate.
The hyperactivity of the bone marrow can lead to thickening of the cranial bones and thus a distortion to facial features. Pathological fractures are common, especially in the long bones of the legs.
It is a very difficult illness to treat as blood transfusions can assist but ultimately lead to an iron overload in the body, requiring measures then to reduce the iron levels. Removing the spleen can help in patients who have developed a grossly enlarged spleen.
The prognosis and life expectancy can only be assessed on an individual basis, and depends on many factors.
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