All you wanted to know about Thalassemia

Posted by : Dr. B. Padate, 22 Jul 2015 10:36 AM
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What is thalassemia?
Thalassemia is a genetic blood disease. In the course of this disease, body makes an abnormal form of hemoglobin. This results in excessive destruction of red blood cells, which leads to anemia. Anemia is a disorder in which your body doesn’t have enough normal, healthy red blood cells (RBC). This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. It is caused by either a genetic mutation, or a deletion of certain key genes.
What is thalassemia minor?
Thalassemia minor is a condition where a person is asymptomatic and a carrier of thalassemia gene. 
What is thalassemia major?
Unlike thalassemia minor, thalassemia major occurs when a child inherits two mutated genes, one from each parent. Children born with thalassemia major usually develop the symptoms of severe anemia within the first year of life. They lack the ability to produce normal, adult hemoglobin and complications of anemia. Children with thalassemia major are chronically fatigued and do not grow normally. 
Prolonged anemia causes bone deformities.  Thalassemia major eventually leads to death either because of complications of anemia or side effects of blood transfusions like heart failure, iron overload etc. 
How do you get thalassemia?
At the time of conception, a person receives one set of genes from the mother (egg) and a corresponding set of genes from the father (sperm). The inheritance pattern in thalassemia is such that two sets of genes on different chromosomes cooperate to produce hemoglobin. A defect anywhere in this complex can produce thalassemia. 
How do you prevent thalassemia major? 
Once a person has been detected with a thalassemia minor or major, his/her siblings/parents should be informed immediately. This is to help parents think if they are planning for a baby. Also, when two thalassemia minor(s) get married chances of them having a baby with thalassemia major are high. So if one is informed, the birth of a thalassemia major can be prevented. 
How can thalassemia major be treated?
Standard treatments that are used for thalassemia are blood transfusions and iron chelation therapy. 
Blood Transfusions - Transfusion of red blood cells is the main treatment for people who have thalassemia major. This treatment gives you healthy red blood cells with normal hemoglobin. Red blood cells live only for about 120 days. So, you may need repeated transfusions to maintain a healthy supply of red blood cells.
Iron Chelation Therapy - Hemoglobin in red blood cells is an iron-rich protein. Thus, regular blood transfusions can lead to a buildup of iron in the blood. This condition is called iron overload. It damages liver, heart, and other parts of the body. To prevent this damage, doctor’s use iron chelation therapy to remove excess iron from the body. 
Bone Marrow and Stem Cell Transplant - Bone marrow and stem cell transplant replaces faulty stem cells with healthy ones from another person (a donor). Stem cells are the cells inside bone marrow that make red blood cells and other types of blood cells. A stem cell transplant is the only cure for thalassemia. But only a small number of patients with thalassemia major are able to find a good donor match and have this risky procedure.
What are the complications of thalassemia that one can suffer?
Complications of thalassemia are either related to the disease itself like anemia related heart failure or related to treatments like iron overload in organs leading to liver or heart dysfunction. 


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