What is Thalassemia
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| Thalassemia comes from the Greek word "thalassemia"
which means "anemia by-the-sea." The name thalassemia was coined
at the University of Rochester in upstate New York by the Nobel Prize-winning
pathologist George Whipple and the professor of pediatrics William Bradford
from the Greek thalassa for sea and -emia meaning the blood.
Thalassemia was first described by Cooley and Lee in 1925. Most of their
patients were of Mediterranean ancestry and a majority of them suffered
anemia. Hence this group of anemias are also known as Cooley's Anemia
or Mediterranean Anemia.
The thalassemias are a group of genetic blood disorders that affect a
person’s ability to produce hemoglobin. Hemoglobin is the protein
in our red blood cells that carries oxygen and nutrients to all parts
of the body.
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Causes of Thalassemia
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| Thalassemia is an inherited disease it is passed
on from parents to their child through their genes. It is an autosomal recessive
trait and is not linked by sex chromosomes. |
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People at risk
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| People who have ancestry from Southeast Asia, southern China,
the Middle East, the Mediterranean (Greece, Italy, Turkey), South Asia,
parts of North Africa, and parts of the Pacific Islands are at an increased
risk for thalassemia. |
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Symptoms of Thalassemia
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| Severe anemia |
| Jaundice |
| Enlarged spleen |
| Fatigue |
| Reduced appetite |
| Growth problems |
| Increased susceptibility to infection |
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Diagnose of Thalassemia
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| Blood count |
| Blood film |
| Saturated iron binding capacity of serum ferritin levels |
| Hemoglobin electrophoresis is an important test to diagnose
thalassemia. |
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Treatment of Thalassemia
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| Long term Vitamins like folic acid supplements |
| Regular blood transfusions may be required. |
| Splenectomy - spleen may need to be removed. |
| Bone marrow transplantation - In advaced disease this can
be a permanent cure. |
| A recent development in transplantation involves using blood
from the umbilical cord from a newborn baby. Since the baby's cells are
immature, there is less chance that the recipient will reject the transplant. |
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Complications from Thalassemia
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| Complications might occur due to iron overloading by repeated
transfusions and hence should be periodically assessed. Intensive research
is being carried out on prenatal diagnosis and gene therapy. |
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