Beta Thalassemia (cont.)
What is Mediterranean anemia?
The gene for beta thalassemia is not evenly distributed among peoples. It is, for example, relatively more frequent inpeople of Italian and Greek origin, both of which are peoples from the Mediterranean. Because of this, thalassemiamajor has been called Mediterranean anemia.The name thalassemia was coined at the University of Rochester in upstate New York by the Nobel Prize-winningpathologist George Whipple and the professor of pediatrics William Bradford from the Greek thalassa for sea and -emia, meaning the blood. Thalassemia means "sea in the blood." But for the Greeks, the sea was the Mediterranean,so thalassemia also conveys the idea of the Mediterrranean in the blood.The reason that the gene for beta thalassemia is relatively common, for example, among people of Italian and Greekorigin is that parts of Italy and Greece were once full of malaria. The presence of thalassemia minor (like sickle celltrait in Africa) afforded protection against malaria, and therefore, this gene thrived.
What is the genetic pattern of inheritance of beta thalassemia?
The pattern of genetic transmission of beta thalassemia (and sickle cell disease) was deciphered by James V. Neelwhen he was at the University of Rochester (he later went to Michigan). Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. When these parents hadchildren, they have a 25% chance of having a thalassemia major child (with both genes for beta thalassemia), a 50%chance of having children with thalassemia minor (with only one gene for beta thalassemia), and a 25% chance of having a child without thalassemia major or minor (with both genes for normal beta chains). This form of inheritanceis medically referred to as an autosomal recessive pattern.
The diagnosis of thalassemia major and minor
Persons with thalassemias have smaller sized red blood cells than normals as well as low red blood cell counts(anemia). Thalassemia major and thalassemia minor can now be diagnosed (and distinguished from one another) notonly by conventional clinical and blood testing, but also by molecular medical tests. These tests permit accuratediagnosis to be made at any time, even before birth (in fact, well before the beta chain machinery is fired up to makebeta chains for hemoglobin).
The treatment of thalassemia major
Infants with thalassemia major are well at birth because of a special form of hemoglobin present in the fetus andnewborn. Eventually, however, this hemoglobin is replaced by defective hemoglobin. Symptoms emerge late in thefirst year of life. The child develops pale skin, irritability, growth retardation, swelling of the abdomen due toenlargement of the liver and spleen (hepatosplenomegaly) with jaundice. This is associated with severe anemia withrupture of the red blood cells (hemolytic anemia). The child with thalassemia major becomes dependent on bloodtransfusions and, although they do help, they create further problems including iron overload. Folic acidsupplementation is often given. At this time, there is only treatment for relieving the symptoms of the illness for thalassemia major. Gene therapy remains a potential treatment for the future.