Overlap-Syndrome in Hereditary Hemochromatosis (Case Reports)

Hemochromatosis is a hereditary disease that affects many organs and tissues. It is associated with other genetic and autoimmune disorders. The article presents 2 cases of family hemochromatosis (a father and his son), the difficulties of its diagnosis, as well as the interconnections with other diseases. Making a diagnosis is complicated by the fact that the manifestations of the disease are often subtle and nonspecific, especially at its beginning. For example, a patient from the first case report presented with an incoming diagnosis of arterial hypertension. Nobody had found any associations between his son’s autism spectrum disorder and his complicated heredity. One of the problems related to hemochromatosis is that its treatment at the early stages is currently not developed. At the stage of clinical manifestations, the treatment is mostly symptomatic. The chemotherapy is recommended only in severe cases. If this disease is diagnosed, couples planning pregnancy should be consulted by a geneticist.