Understanding Thalassemia

Thalassemia is an overarching term referring to several forms of hereditary blood disorders in which the proportion of the hemoglobin in the red blood cells is abnormal. Since this is a hereditary condition it is carried on the genes and present at birth. The condition causes anemia and other abnormal problems. This affects about 100,000 babies born each year worldwide. This article provides a basic overview of Thalassemia including symptoms, diagnosis and modern treatment opportunities.

If a child inherits the trait for Thalassemia from both parents, this creates the most severe form of the disorder called thalassemia major or it is also known as Cooley’s anemia - named after the physician who first discovered and described the condition in the mid 1920’s. The condition is usually referred to as being mild, intermediate or major. Thalassemia occurs most often in those of Southern Asian, African, Greek, Italian and Middle Eastern descent.

Testing can now be done during pregnancy and there are blood tests and genetic counseling to help people determine if they have the disease or are carriers.

For those with minor thalassemia, there may be no symptoms. Those with a moderate case of the condition may exhibit no symptoms during infancy and childhood, but the anemia may appear later in life. With thalassemia major, there may be no symptoms at birth, but the children soon show signs of the illness which may include a poor appetite, a pale or jaundiced (yellow) appearance to the skin, slow growth, and listlessness. If left untreated in these severe cases, organs such as the spleen, liver and heart can become enlarged, bones become thin and brittle and may distort, and heart failure and even death can result.