less than 40 years of age) and more severely affected patients, offers the potential for curative therapy. The success of bone marrow transplantation has been found to correlate with severity of MDS as determined by the IPSS score, with patients having a more favorable IPSS score tend to have a more favorable outcome with transplantation. Iron levels
Iron overload can develop in MDS as a result of the RBC transfusions, which are a major part of the supportive care for anemic MDS patients. Although the specific therapies patients receive may alleviate the RBC transfusion need in some cases, many MDS patients may not respond to these treatments, thus may develop secondary hemochromatosis due to iron overload from repeated RBC transfusions. Patients requiring relatively large numbers of RBC transfusions can experience the adverse effect of chronic iron overload on their liver, heart, and endocrine functions. For patients requiring many RBC transfusions, serum ferritin levels, number of RBC transfusions received, and associated organ dysfunction (heart, liver, and pancreas) should be monitored to determine iron levels. Monitoring serum ferritin may also be useful, aiming to decrease ferritin levels to < 1000 µg/L.Currently, two iron chelators are available in the US, deferoxamine for intravenous use and deferasirox for oral use. These options now provide potentially useful drugs for treating the iron overload problem.
The incidence rate is extremely low in Japan, with between 5 and 10 cases per 1,000,000 live births. In the United States, Krabbe disease occurs in approximately 1 out of every 100,000 live births. Scandinavian countries report incidence rates of one in 50,000 births. In certain communities Krabbe disease is much more frequent, such as the Druze community in Israel, which has an incidence rate of 6 out of every 1,000 live births. This higher rate is thought to be due in part to a high frequency of consanguineous marriages. Almost 35% of all Druze marriages were found to be between first-cousin familial relations. There have been no reported cases of Krabbe disease among the Jewish community.Time of onset also varies in frequency by location. Early infantile Krabbe Disease is the most common form of the disease overall, but Nordic communities tend to have even higher rates of early infantile onset Krabbe disease, while Southern European countries have higher incidences of late-onset cases. It is difficult to estimate the incidence of adult-onset Krabbe disease, due to discrepancies in classifying cases late-onset versus adult-onset. Society and culture
Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for Krabbe disease following the diagnosis of his son, Hunter, in 1997. Hunter Kelly died of the disease on August 5, 2005, at the age of eight.