What is Thalassemia?
Thalassemia is a complex series of inherited genetic disorders that involve the underproduction of hemoglobin, the red protein molecule that transports oxygen from the lungs to the body tissues. Hemoglobin is also important in reverse because it returns carbon dioxide from the tissues to the lungs. It has two goblins an Alfa globin and Beta globin. Thalassemia results from the excessive destruction of red blood cells because of incompletely formed hemoglobin.
Normally, the globin part of hemoglobin has four polypeptide chains (where two chains are of one type and two chains of another). Thalassemia causes a mutation in one of the types of globin chains. This develops into hemolytic anemia, the underproduction of that globin chain. To address the problem, thalassemia patients get blood transfusions on a regular basis.
I’m Sick … So what are the Symptoms of Thalassemia?
For starters, look for deformities of face bones, plus fatigue and jaundice. Look for difficulty in breathing and shortness of breath. Look for swelling in the spleen caused by excessive destruction of red blood cells. Furthermore, the problem may affect children as well if you see delays in the growth of a child.
Tests: How do you know if you have Thalassemia?
Using a microscope, red blood cells will appear small and abnormally shaped. A complete blood count (CBC) test can reveal anemia. Furthermore, a hemoglobin electrophoresis test can detect any abnormal form of hemoglobin other than the standard form. Also, mutation analysis allows one to find out the type of thalassemia present, whether it is Alfa or Beta form.
What are the Treatments for Thalassemia?
You can have a folic acid supplement and routine blood transfusions are another treatment along with chelation therapy to remove excess iron from the body because of blood transfusions. Avoid giving or receiving iron supplements when blood transfusions take place. Bone marrow transplants are among the best options for treatment when a patient is a child.
Repercussions and Outlook
Severe thalassemia has dangerous repercussions. It can cause early death, usually between the ages 20 and 30 from heart failure. Untreated, thalassemia can lead to heart failure and liver problems. Infections are common with patients. Blood transfusions can help control some symptoms, but may result in too much iron in the system, which can then damage other parts of the body, like the heart, liver and endocrine system.
At the other end, less severe forms of thalassemia typically do not result in a shorter life span.
Can It be prevented?
Since there is a genetic factor involved, getting genetic counseling and prenatal screening are two of the best ways available to those with a family history of this condition who are planning to have children. If a person has the thalassemia condition, then there is a high likelihood that the children will get the condition.