Thalassemia was first recognized in 1925 by a Detroit physician Thomas Benton Cooley who studied Italian children with acute anemia (low levels of red blood cells), huge abdominal organs, poor growth, and death in early childhood. The term ‘thalassemia’ was, however, coined by the Nobel Prize winning pathologist George Whipple and professor of pediatrics William Bradford. It was derived from Greek ‘thalassa’ for sea + modern Latin ‘-aemia’ for ‘present in the blood.’
Earlier, it was called Mediterranean anemia because it was first described in people of Mediterranean ethnicities but in 1932, the use of the word ‘thalassemia’ began. Thalassemia is an inherited disease i.e., passed through generations in which the body produces abnormal kind of hemoglobin (the protein in red blood cells, responsible for carrying oxygen from the lungs). The disease affects the body’s capacity to produce red blood cells (RBCs) and hemoglobin, thereby causing anemia.
Thalassemia is one of the most common genetic disorders in human beings. As per Global Burden of Disease Study 2013, thalassemia occurs in about 280 million people, and approximately 439,000 people are having it in severe form. It is found among people of all ethnicities and in almost every country of the world. There are, however, certain thalassemia types which are more common in specific countries, e.g., beta thalassemia is more common in Mediterranean countries like Cyprus, Sardinia, Malta, Spain, Italy, and Greece, Eastern Europe; North Africa; and India. On the other hand, alpha thalassemia is more common in the Middle East, Africa, Southeast Asia, and India. In 2015, 16,800 deaths resulted from thalassemia.
Causes, Symptoms, and Treatment
Thalassemia is caused when one inherits a missing or damaged gene from one or both the parents. Depending upon the severity of the condition, thalassemia can be classified as—thalassemia minor and thalassemia major. Thalassemia minor occurs when the problem is inherited from only one parent. This does not lead to any symptoms. On the other hand, thalassemia major develops when the problem is inherited from both parents.
There are two types of thalassemia—alpha and beta—depending upon which chain of the hemoglobin molecule is affected. In case of alpha thalassemia, production of the alpha globin chain of hemoglobin molecule is affected, while in beta thalassemia, production of the beta globin chain is affected.
Children with thalassemia major, show prominent symptoms during the first two years itself. Some common thalassemia symptoms include pale skin, lethargy, lack of appetite, dark urine, jaundice, etc. Untreated thalassemia major can cause heart failure and infection.
The type of treatment given to a person depends upon the severity of the thalassemia he or she is having. Sometimes supplemental B vitamin, known as folic acid, is prescribed to patients to help treat anemia. It is usually given in addition to other therapies.
One of the most important treatment options available to patients with thalassemia major is regular blood transfusions. Although it allows a patient to live a more or less normal life, this is not a permanent cure for thalassemia disease. On an average, a patient with thalassemia major requires blood transfusion every 2 – 4 weeks, depending upon his or her consumption of the infused RBCs. However, frequent transfusions involves a risk of iron overload, in which iron from RBCs collects in organs such as heart, liver, and brain and may impair their functioning. To prevent this, chelation therapy involving pills or shots under the skin, is given to patients to remove excess iron from the body.
A potentially curative treatment for thalassemia is hematopoietic cell transplantation (HCT) that involves giving high-dose chemotherapy to destroy thalassemia-producing cells in the marrow and replace them with healthy donor cells from umbilical cord or bone marrow blood. HCT has more favorable outcome in younger patients.
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