What is Thalassemia?

Thalassemia is a blood disorder that affects approximately 5% of the world population. WHO has designated 8th May as World Thalassemia Day to raise awareness about this disease. There are events conducted by WHO and other NGOs to spread consciousness about the disorder, preventive measures and measures to avoid transmission. This exercise is also aimed at giving thalassemia patients a special chance to live like normal people and prevent the spread of disease with early diagnosis.

What is Thalassemia?

Thalassemia is an inherited blood disorder that causes the body to produce less hemoglobin and fewer red blood cells than normal. Hemoglobin is an important protein in the blood as it helps to spread oxygen throughout the body. Low levels of hemoglobin results in mild to severe anemia.

Symptoms

• Fatigue, tiredness, and weakness

• Pale or yellow skin

• Bone deformities in the face

• Delayed growth

• Abdominal swelling

• Dark urine

Causes

Thalassemia is caused by abnormal mutations in the DNA of cells that make hemoglobin. It is a genetic disease passed on from the thalassemia parents to the child. If one of the parents is a carrier of thalassemia, the child may develop thalassemia minor. This may not show symptoms but the child will be a carrier of the disease. However, if both the parents have the disease, then there are greater chances of a child inheriting a serious form of the disease.

 

Diagnosis

Thalassemia is diagnosed through blood tests. The doctors look for anemia and abnormally shaped red blood cells which are typical signs of thalassemia.

Treatment

Treatment for thalassemia depends on the type and severity of the disease. Usually, treatment involves:

• Blood transfusions

• Medications and folic acid supplements

• Bone marrow transplant

• Sometimes surgery to remove spleen or gallbladder

• When repeated blood transfusions are done, then chelation therapy is suggested as well to maintain optimum iron content in the blood

Prevention

As thalassemia is an inherited disease, it is not possible to completely prevent it. However, the percentage of people with the disease can be controlled if prenatal tests are done. This will help in early detection and cure before childbirth.

If thalassemia has been in the family, it’s better to get oneself checked to see if he/she is a carrier of the gene before planning a family. With proper treatment, it’s possible to prevent the child inheriting the gene.