The word thalassemia comes from the Greek “thalassa” shouted by Xenophon's troops when they finally reached the Black Sea. “Thalassa, Thalassa,” they cried, thinking they were on the Mediterranean. That mistake was not really very profound because thalassemia, or the blood disease of the sea, is heavily endemic around the Black Sea, the Mediterranean, and throughout the Old World, where malaria was prevalent. Because patients who are heterozygous for thalassemia are somewhat resistant to malaria, this small edge that they have has caused this disease, a genetic disorder, to proliferate massively throughout the Old World, where it is presently a huge health problem, straining blood supplies and causing enormous problems for medical and public health facilities in that part of the world.
The disease is very rare in the United States because this is a “melting pot,” where there is far more interracial marriage, or what the veterinarians would call “outbreeding.” This has reduced the incidence of homozygosity in this country a great deal, but this is the disease that brought me into pediatrics from an internal medicine career at the Brigham and Women's Hospital. There I was privileged to see these cases as a result of Dr Louis Diamond's interest in my development as a hematologist.
When I came to Children's Hospital, I saw a boy about whom I've written a book called Genes, Blood and Courage. He had this disorder and his pediatrician said that his parents should take him home and not transfuse him, because he would die of iron overload from the transfusions. He might have a more mild form of the disease and not die in very early childhood.
By the time he was 6 years old, he was distorted with an abnormal face. He had broken every long bone in his body because …