Thalassemia Symptoms

The condition of thalassemia is related to the less production of hemoglobin and red blood cells in the body. It is an inherited disorder, wherein the low count of hemoglobin and red blood cells may lead to anemia. Alpha-thalassemia and beta-thalassemia are the two of its kinds. The names are related to the two protein chains which make up the normal hemoglobin. They are the alpha hemoglobin chain and the beta hemoglobin chain.

The alpha hemoglobin chain is made up of 4 genes and if one or more of these genes are defective, then the person may develop alpha thalassemia. If one gene is defective, then the person may not show any signs or symptoms, whatsoever. In case, the person has inherited two defective genes from his parents, then the symptoms will be mild and the condition will generally be referred to as an alpha-thalassemia minor. A condition wherein, three genes are defective, the person may experience mild to severe symptoms. Alpha-thalassemia major is the name given to a condition, where all the four genes are defective and it is characterized by severe symptoms. In some cases, this condition causes a fetus to die a premature death before delivery, or shortly after birth.

Coming to beta-thalassemia, two genes make up the beta hemoglobin chain. If one gene is defective, then the symptoms will be mild. Symptoms get mild to severe when two genes get defected. In this case, the condition is also known as beta-thalassemia major or Cooley's anemia.

Symptoms Caused by Thalassemia

Common symptoms may include fatigue, weakness of the body and shortness of breath. The affected person will have a pale appearance of his skin and he would seem to be more irritable than normal. The skin may also take a yellow discoloration and the abdomen may seem to be protruding. Other symptoms are slow growth, dark-colored urine and facial bone deformities. All such symptoms or signs may occur at birth or might take about two years of life, to have their occurrence. There are some who may not even experience any such symptoms, if they have one hemoglobin gene that is affected.

Thalassemia Causes

Regarding the cause(s), there are certain genes which are responsible for the construction of hemoglobin in the body. Anything which is amiss in such genes, may give rise to thalassemia. One gets affected by this disorder, only through genes passed on or inherited from the parents.

Thalassemia Treatment

Treatment depends on how severe the thalassemia symptoms are and the type of the disease. For symptoms which are mild, little treatment is required. An occasional blood transfusion is required by the patient, especially after having a baby, a surgery or in case the patient is suffering from infection.

For severe symptoms, the patient might require blood transfusions frequently; about 8 times or more in a year. Frequent transfusions tend to cause a build up of excess of iron, which may be harmful for the liver, heart and other organs. To take care of this condition, the patient may be given medications to get rid of the excess iron from their blood. Some patients might even have to undergo a surgery which involves a bone marrow transplant or a stem cell transplant. However, these procedures harbor severe risks or complications including death. So, generally they are kept as the last resort to treat thalassemia.

Given the inherited nature of thalassemia, chances of preventing it is close to nil. However, before parenting a child, it is advisable to go for a genetic counselor for guidance.