The thalassemia profile test is prescribed to people who are at a risk of passing genetic disorder to their offspring. Thalassemia is a group of blood disorders and this profile test helps determine what is causing them. People are either carriers of thalassemia or are suffering from this disorder. Since it is a life-threatening condition, the profile test is prescribed for those who have a history of blood relatives suffering from thalassemia so that defective genes are not passed on to the fetus.
The thalassemia profile test is done to check if the parents are either suffering from or are carriers of the genetic defect responsible for thalassemia. There are mainly two types of thalassemia. The first one is related to alpha-globin. This can lead to having milder symptoms or no symptoms at all. The second one is related to beta-globin. This too can be mild, but can become severe, depending on the number of mutated genes present.
People who are carriers of thalassemia display no symptoms and can lead a normal life. People suffering from mild thalassemia too can do away with extensive therapies. But, people suffering from moderate to severe thalassemia would require constant monitoring and blood transfusion therapies.
Since it is a blood disorder affecting hemoglobin, anemia and fatigue are the constant signs that a person displays. The symptoms of thalassemia include:
The thalassemia profile test checks for the type and number of mutations in the genes responsible for producing hemoglobin. There are two major types of thalassemia, based on the genes it affects. These are: alpha thalassemia and beta thalassemia.
In alpha thalassemia, the alpha-globin is affected. A person gets four genes that are responsible for the production of the alpha-globin—two from each parent. If one alpha gene is missing, the person becomes a silent carrier and shows no signs of anemia. If two genes are missing, the person has the trait, along with mild symptoms. If three genes are missing, the person suffers from hemoglobin H and is considered to fall under the moderate risk zone. If four genes are missing, the person is severely anemic and would require immediate therapy.
In beta thalassemia, the beta-globin is affected. Two genes are responsible for the formation of the beta-globin and a person inherits one gene from each parent. If one gene is missing, the person is a silent carrier and has mild anemic traits. If both genes are missing, the person is thalassemic and at moderate to severe risk.
The thalassemia profile test is prescribed to people who are either showing milder signs of anemia or have parents affected and want to see if they are carriers or not. Blood samples are collected and an experienced phlebotomist is tasked with ensuring the person suffers the least. Hence, there are no risks associated with the procedure of blood collection.
In terms of side effects, since the blood drawn can be from a person suspected to be thalassemic, they might be anemic, provided the mutations are there. This would lead to the person feeling dizzy and nauseous during the procedure. Taking rest is prescribed in such cases.
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Treatment for thalassemia depends on the severity of the condition and which gene mutation has occurred. Blood transfusions or stem cell transplants are provided for severe cases. People having milder thalassemia are provided with vitamin therapy.
People with a history of thalassemia can opt for prenatal screening tests like chorionic villus sampling or amniocentesis to check if the fetus is thalassemic or not.
Yes, thalassemia and its treatments can cause iron overload. Hence, iron chelation is part of the treatment to prevent damages to other organs.
The thalassemia profile test includes a total of four types of tests to check for thalassemia. To detect alpha thalassemia, genetic testing is done. The results can show how many genes are absent and the prognosis is conducted accordingly. For beta thalassemia, hemoglobin electrophoresis is done. The resulting genetic information helps with the treatment. Additionally, CBC and reticulocyte count tests are also taken, and, depending on the results, treatment is started.
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