Definition:
Thalassemia major is an inherited form of hemolytic anemia, marked by red blood cell (hemoglobin) production abnormalities. This is the most extreme form of anemia, and the oxygen depletion in the body becomes apparent within the first 6 months of life. If left untreated, death generally results within a few years.
Diagnosis:
The diagnosis of thalassemia trait and thalassemia major is made from microscopic examination of the blood, which manifests many small, pale red blood cells, and from other blood tests that show reduced levels of adult hemoglobin in the blood.
Treatment:
The primary treatment is regular blood transfusions, typically every four weeks. In addition to the blood transfusions, doctors suggest injections of Desferal to help the body flush out the extra iron created by the new blood. The injections are administered under the skin from a small pump 5 to 7 nights a week.
Symptoms and Signs:
People with thalassemia major may experience paleness, headaches, fatigue, shortness of breath, jaundice, and spleen enlargement.
Causes:
Thalassemia is a genetically determined disease, and it tends to be found in individuals whose families come from the Mediterranean region, Africa, and sometimes Asia.
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