This is another defect in which the normal formation of hemoglobin is interfered with. It was first described in 1925 by Thomas Cooley, who noticed children dying in the first year of life with a severe anemia and enlargement of the spleen. He coined the term that comes from the Greek meaning “the sea” for he also noted that all these persons came from the Mediterranean region.
However, the disorder is an inherited one, and in fact is made up of a series of syndromes now generally given this name. It occurs fairly widely in the Far East, parts of India, Burma and Pakistan, in the Middle East and North Africa as well as around the Mediterranean regions. It is estimated that the carrier rate is between two and ten percent in these areas, and there are at least 100,000 children in the world with the disorder.
Typically the infant is born normally, but about the third month becomes anemic, showing growth retardation and an enlarged spleen. Typical bone changes occur, giving a Mongolian type facial feature. Fractures are common. Anemia is usually marked, and there is a variation in the appearance of the blood cells when seen under the microscope. Affected children are very prone to infection. There is usually a deficiency of folic acid, and an overload of iron can readily occur.
Many of these children require regular blood transfusions if they are to survive. SECT! Recurring illnesses are common. Many organ abnormalities develop, and unless repeated blood transfusions are given, it is rare for many to survive to the second decade of life. If puberty is reached, growth retardation, reduced endocrine and sexual development occur.
Despite the grim outlook, if cared for in specialized centers fully equipped to manage them, quite a few patients survive for many years. Blood transfusions are necessary every six to eight weeks. Transfusion reactions are common despite careful cross matching of the blood. Folic acid is given; iron withheld, and infections vigorously treated. In some, removal of the spleen gives added benefits.
In recent years special medication called chelating agents have been used with some success to prevent the system becoming overloaded with iron. A note of hope should be given to the patient and parents for the situation is not totally hopeless, and encouragement can at least improve the outlook, even if marginally.