Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large number of red blood cells being destroyed,which leads to anemia.
Thalassemia is inherited, meaning that at least one of parents must be a carrier of this disorder. It’s causes by either a genetic mutation or a deletion of certain key gene fragments.
There are two main types of thalassemia-
1)Alpha thalassemia
Alpha thalassemia occurs when a gene grnes related to the alpha globin protein are missing or changed (muted)
2)Beta thalassemia.
Beta thalassemia occurs when similar gene defects affect production of the beta globin protein
Symptoms:
The symptoms will not show until the age of 6 months in most infant will beta thalassemia and some types of alpha thalassemia.This is because neonates have a different type of hemoglobin, called fetal hemoglobin.After 6 months,normal hemoglobin starts replacing the fetal type and symptoms may be begin to appear.
The signs & symptoms have depend on the type and severoty of patients condition. Thalassemia digns and symptoms can include: Fatigue Weakness Pale or yellowish skin Facial bone deformities Slow growth Abdominal swelling Dark urine Some babies show signs and symptoms of thalassemia at birth,other develop them durinf the first two years of life. Some peoplr who have only one affected hemoglobin gene don’t have thalassemia symptoms.
Diagnosis:
Most children with moderate to serve thalassemia show signs and symptoms within their first two years of life. If your doctors suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size shape or color.Blood tests can also be used for DNA analysis to look for mutated genes.
Testing:
Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it might be.Tests used to diagnose thalassemia in fetuses include : 1)Chorionic villus sampling :Usually done around the 11th week of pregnancy, this test involves removing in a tiny piece of the placenta for evaluation. 2) Amniocentesis :usually done arount the 16th week of pregnancy, the test involves examimies a sample of the fluid that surrounds the tests.
Treatment:
Mild forms of thalassemia trait don’t need treatment. For moderate to severe thalassemia, treatments might include: Frequent blood transfusions. More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs. Chelation therapy. This is treatment to remove excess iron from your blood. Iron can build up as a result of regular transfusions. Some people with thalassemia who don’t have regular transfusions can also develop excess iron. Removing the excess iron is vital for your health.
To help rid your body of the extra iron, you might need to take an oral medication, such as deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug, deferoxamine (Desferal), is given by needle.
Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant might be an option in some cases. For children with severe thalassemia, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload.
This procedure involves receiving infusions of stem cells from a compatible donor, usually a sibling.
Courtesy: Sanjida Rahman
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