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What is thalassemia?

  • By Team TDO

Oxygen is distributed throughout the body via the help of hemoglobin in the red blood cells. In case of low range of hemoglobin, one may suffer from anemia, which in extreme cases, could result in failure of organs, and subsequently, death.

Thalassemia is an inherited condition, and therefore, it is extremely difficult to avoid the transference of disorder from parents to their offspring. A genetic counselor would be able to put forward ways in which you can deal with situation at birth when one of the partners or their family members are suffering from thalassemia.

Thalassemia can be broadly categorized into two types: alpha thalassemia and beta thalassemia. Both the alpha and beta-globin are required in order to produce hemoglobin.

Did you know that thalassemia is also known as Cooley’s anemia? Dr. Thomas Cooley, an American pediatrician who, for the first time, reported and elaborated on the key features of this disease in 1927.

Beta thalassemia: Two genes operate together to make the beta-globin work. When both or one of these genes do not work properly, the patient suffers from beta thalassemia. In case of one dysfunctional gene, there is mild anemia, which might not require treatment. This state of the disorder is generally known as beta thalassemia minor. This occurs when one of the parents is suffering from thalassemia. When both the parents are patients of thalassemia, then the child might become a victim of beta-thalassemia intermedia or beta thalassemia major. They respectively cause moderate and severe anemia. While those diagnosed with the moderate anemia will have to undergo certain number of blood transfusions, the severe cases have to go through blood transfusions throughout their lives. After a few months of birth, it is possible to point out signs of anemia and start treatment.

Alpha thalassemia: There are four genes which govern the alpha globin. When one or more of these genes are not functioning properly, the condition is known as alpha thalassemia. Those who have only one of the genes malfunctioning will not need to undergo treatment. However, in medical terms, they will be a ‘silent carrier’ who has the potential to transfer the defective gene to their children. Alpha thalassemia minor or alpha thalassemia trait refers to the condition where a person has two damaged genes. Such a patient suffers from mild anemia. Those who have three of these genes not functioning appropriately can have moderate or severe anemia. This condition is often known as hemoglobin H disease. Blood transfusions might be required in severe cases. Hydrops fetalis or alpha thalassemia major refers to the case where all the four genes are nonexistent/missing. In these cases, the fetus is a still-born or could die soon post birth.

Thalassemia is caused by defect or non-existence of one or more genes.

The primary sign of thalassemia is anemia, which includes signs such as fatigue, shortness of breath, lethargy, and others. Those infants who are born with thalassemia could in fact have slow development, abnormal skull growth, recurrent fever and diarrhea, and feeding issues.

The concrete way of diagnosing thalassemia is through a complete blood count (CBC), iron level test, gene test, and a blood test which would weigh the quantity of different types of hemoglobin you have.

Treatment for thalassemia depends on the nature of your case. Nowadays, blood disorders form a well-developed department of major medical institutes. While mild case of thalassemia might not need treatment, in moderate to severe cases treatment could be met through blood transfusion as well as folic acid supplements. Folic acid is a form of vitamin that allows your body to produce red blood cells.

In case of recurrent blood transfusions, the body might be prone to high-iron which could be dangerous for heart and other organs. In order to avoid complication, recommendations to avoid vitamins containing iron and to prevent consumption of extra vitamin C are made. Chelation therapy could also be suggested in case of excessive quantity of iron. This therapy permits the body to remove iron. Some of the less ordinary treatment methods include surgical removal of spleen and bone marrow transplant of stem cells.

Make sure you get flu vaccines annually. You could also consider getting the pneumococcal vaccines which will strengthen your body’s immunity to infections (which could worsen the anemia).

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