Written By: Shraddha Rupavate | Updated : May 22, 2014 1:02 PM IST
May 8 is the World Thalassemia Day
India carries the burden of more than 10,000 thalassemic children born every year. Statistically about 3.4% of Indian population suffers from thalassemia. According to hematology experts, this condition can largely be prevented with increased awareness. Here is all you need to know about the condition.
What is thalassemia?
Thalassemia is a disease of the blood in which a person suffers form anemia as a result of destruction of the red blood cells (RBCs).
What causes the disease?
Thalassemia is a genetic condition. There are specific genes that code for hemoglobin, the protein in RBCs responsible for carrying oxygen throughout the body. There are separate genes coding for alpha and beta chains that are self-arranged to form a hemoglobin molecule. Defects in either of the genes can result in the production of abnormal hemoglobin which causes RBC destruction.
You may inherit this defective gene either from your mother or your father or from both. Depending on the inherited pattern, the disease is manifested in 2 forms: Thalassemia major and thalassemia minor.
Thalassemia minor: In case the defective gene is inherited from either of the parents the child will be thalassemia minor.
Thalassemia major: If the defective gene is inherited from both the parents then the child will be thalassemia major, a severe form of thalassemia.
What are the symptoms of thalassemia?
Thalassemia minor: Those who have inherited the defective gene for alpha chain of hemoglobin usually do not show any symptoms. That's because the alpha gene defect does not cause any major problem that interferes with the hemoglobin function. But people who have a defective beta chain of hemoglobin have mild anemia. Here are other some other associated symptoms:
Thalassemia major: People who have inherited the defect for beta chain of hemoglobin from both the parents suffer from thalassemia major, also called hemoglobin H disease or Cooley's anemia. The symptoms are severe and seen within the first 2 years of life. They may include:
How is thalassemia diagnosed?
Severe thalassemia is diagnosed early in childhood because the signs develop within the 1st two years of life. Milder form of thalassemia is diagnosed with a complete blood count and hemoglobin test.
What are the treatment options for thalassemia?
Treatment depends on the form of condition the patient suffers from. Currently, it is treated with blood transfusion and chelation therapy.
Blood transfusion: Blood transfusion is the main treatment given to patients with major thalassemia. Since the RBCs survive only for 120 days, transfusion is required every 2-3 weeks to replace the unhealthy RBCs with healthy ones.
Iron chelation therapy: With repeated blood transfusion, the iron load of the blood in thalassemic patients increases. This condition is called iron overload which can create complications and damage other healthy organs including the heart and liver. To prevent iron overload, medicines are prescribed. Deferoxamine and Deferasirox are common iron-chelators that bind free iron in the blood and prevent its elimination through urine.
Supplements: Folic acid supplements may be given to enhance the production of healthy RBCs.
Are there any advance treatment options available?
Stem cell transplant is the only cure for the condition, especially in children with severe anemia. Stem cells are the precursors of RBCs present in the bone marrow. In thalassemic patients, the stem cells themselves carry the defect causing production of abnormal RBCs. But when bone marrow cells from a healthy donor are transplanted into the patient to replace those faulty stem cells they can make their own healthy RBCs. But the treatment is expensive and finding a proper donor is also very rare.
Several studies are now exploring other possibilities to find a cure for thalassemia. One of the approaches involve insertion of normal gene in stem cells of the bone marrow of the patients. With the normal gene, the bone marrow cells will be able to produce their own healthy red blood cells with normal hemoglobin.
Can the condition be prevented?
It is a genetic condition so it can be prevented only in future generations. People who are living with mild thalassemia can prevent their children from carrying the defect with the help of genetic screening. In fact, such individuals should definitely have their partners screened before getting married.
Read more about causes, symptoms, diagnosis and treatment of anemia.
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