Thalassemia is a genetic condition, a blood disorder in which the patient’s body is unable to produce hemoglobin. This declines the number of red blood cells in the body, leading to a decrease in the oxygen capacity of the body. About 1.5 % of people suffer from thalassemia worldwide. To raise awareness about thalassemia, every year 8th May is marked as Thalassemia day.
What happens when you have thalassemia?
The person affected with thalassemia produces less and poor red blood cells (or RBCs). These RBCs are unable to create adequate hemoglobin, which is an iron-containing protein responsible for carrying oxygen from the lungs to body tissues and is responsible for preserving the shape of RBCs. Thalassemia can be treated through processes like chelation and blood transfusion. However, people with this condition have to live under good care to prevent any complications. Good mental and physical health is indispensable to prevent any complications.
Hemoglobin is made of alpha and beta subunits. The mutation in genes HBB, HBA1 and HBA2 in hemoglobin is responsible for causing thalassemia. Each person inherits a pair of the maternal and paternal genes of both alpha and beta subunits. When either of these subunits is affected by mutation it leads to a decrease in the levels of alpha or beta subunits. If the alpha subunit is reduced it causes alpha thalassemia, and reduction in beta subunit causes beta-thalassemia. The severity of thalassemia can range from mild, intermediate, or severe.
Who is at risk?
People with a family history of thalassemia are at high risk for thalassemia. Either one or both the carrier parents can pass on the gene to their children.
What are the symptoms and how to test?
It is seen that many children begin to exhibit the symptoms after the first two years of their birth. They might show face deformities, slow growth, fatigue, cramps, vulnerability to infections, and pale skin. The symptoms of anemia can also be observed, quite rapidly.
The diagnosis of thalassemia is simple and can be done with a blood test, which determines the amount of, and physical abnormalities in RBCs. Another method is to carry out genetic testing, which is a confirmatory test. Furthermore, electrophoresis and High-Performance Liquid Chromatography (HPLC) can be coupled to confirm the presence of abnormal RBCs.
Is thalassemia treatable?
Depending on the severity, thalassemia can be treated with methods like medication, blood transfusion, chelation, gallbladder, or spleen removal. Stem cell transplant is also recommended in many severe cases. It can be beneficial to children who would otherwise have to go blood transfusion throughout their lives.
Is the condition preventable?
It is always advisable for parents to get their thalassemia test done before planning a family.
Children inheriting thalassemia have to undergo painful procedures once they are born and can cause many other complications along the way.
Can a healthy lifestyle positively affect the life of a thalassemia patient?
It is important to make sure the patient is eating a healthy diet concerning thalassemia. A diet low in iron is recommended. Iron-rich food like meat and fish must be avoided. Exercise is suggested to be done in moderation.
The awareness of thalassemia can prevent many children from a life of suffering. It is also important to know that, with proper care, people with mild cases of thalassemia can lead a normal life. This makes it even more important for you to know about this intricate but evitable condition.
