Treatment of Thalassemia

About the disease

Thalassemia is a condition in which a pathological form of hemoglobin is formed. This condition is inherited – if both parents have thalassemia, then a child is likely to inherit a more severe form of the disease.

In thalassemia bone marrow creates the abnormal form of hemoglobin, which is an oxygen-carrying protein in red blood cells. Erythrocytes are destructed by the abnormal form of hemoglobin and a person has low amount of them in the blood. This leads to anemia in severe cases.

The cause of thalassemia is the genetic mutation. A child can inherit thalassemia even if only one of his/her parents have this disease. There are three main types of thalassemia: type alpha, type beta and type minor. The minor type of thalassemia is less dangerous than alpha and beta types, as in those two types either alpha globin or beta globin genes are affected by the mutation. In minor types of thalassemia a person may not even have symptoms of this disease or they will be very minor. Nonetheless, this person still is a carrier of thalassemia and can pass this condition to children, especially if his/her partner also has thalassemia. According to the Centers for Disease Control and Prevention, this disease is more predominant in Asian and Middle East countries.

Symptoms

• Delayed growth of bones and general development
• Deformities of bones
• Paleness
• Weakness
• Fatigue
• Dizziness
• In some cases – dark urine

Diagnosis

• During a general examination a doctor will explore the family history of a patient to determine if his parents have thalassemia. A doctor will also examine skin of a patient and ask about his stamina and overall health condition.
• A blood tests is used to determine if a person has thalassemia. Blood tests can determine the type of thalassemia, as well. Modern techniques allow to separate hemoglobin from other molecules to determine the type of its abnormality.
• An imaging tests (CT, MRI) are used to determine if the spleen is enlarged due to thalassemia.

Treatment

• Conservative treatment uses different vitamins and supplements with iron. Blood transfusions are recommended in some cases, as well.
• Allogeneic bone marrow transplantation is a surgery used to transplant the healthy bone marrow and thus normalize the blood cell production and eliminate the pathological form of hemoglobin.

Authors: Dr. Nadezhda Ivanisova, Dr. Sergey Pashchenko