Thalassemia Definition, Reason, Symptoms, Treatment & Prevention
Definition
Thalassemia is a blood disorder that causes the protein in red blood cells (hemoglobin) to not function properly. Thalassemia is the most common hereditary disease found in Indonesia and Italy. Six to ten out of every 100 Indonesians carry the gene for this disease.
If a couple of them get married, the possibility of having a child with severe thalassemia is 25%, 50% of being a carrier of thalassemia, and 25% of being free of thalassemia.
Most people with thalassemia are children aged 0 to 18 years.
Thalassemia Symptoms
The symptoms of thalassemia can vary from person to person. Most patients have mild anemia. In a more severe form, there may be jaundice, open sores on the skin such as ulcers, gallstones, and an enlarged spleen.
Overactive bone marrow can cause thickening and enlargement of the bones, especially the bones of the head and face. The long bones become weak and break easily. Children who suffer from thalassemia will grow slower than other normal children.
In addition, due to increased absorption of iron and frequent transfusions, excess iron can collect and precipitate in the heart muscle. Ultimately this can lead to heart failure.
Thalassemia Reason
Thalassemia occurs due to abnormalities in the genes that regulate blood formation, so that production is disrupted. This disturbance will result in damage to the red blood cells, which will then cause the rupture of the blood cells.
Diagnosis
Most children with moderate to severe thalassemia show signs and symptoms in the first two years of life.
If the doctor suspects your child has thalassemia, he may recommend a blood test. This blood test can also be used to measure the amount of iron in a child’s blood, evaluate hemoglobin, and perform a DNA analysis.
There are also types of examinations on babies that are carried out during pregnancy. This is useful so that parents can prepare themselves and check whether the thalassemia is classified as severe or not.
Thalassemia Treatment
Treatment for moderate to severe thalassemia includes blood transfusions and stem cell transplants.
It should be noted that patients undergoing blood transfusions should avoid iron supplements and iron-containing drugs. This is because excessive iron can cause poisoning.
Stem cell transplantation may be an option in certain cases, for example in children born with severe thalassemia. This can eliminate the need for lifelong blood transfusions and medications to control iron overload.