Hemochromatosis, type 2 Treatment and Symptoms HEF2A; HEF2B; JH

All disorders described as hemochromatosis cause the body to store too much iron. In hemochromatosis, type 2, which is also called juvenile hemochromatosis, iron accumulation begins early in life, and symptoms are present before the age of 30 years. Men and women are affected equally. Hemochromatosis, type 2 is a subtype of hemochromatosis. The signs and symptoms of juvenile hemochromatosis are similar to those of the adult types of the disorder, but iron accumulation begins early in life and is rapid. Abdominal discomfort or pain is the primary complaint in the first decade of life. Nonspecific symptoms such as weakness, fatigue, weight loss, and nausea are also present in early stages of the disorder. A grey-brownish skin discoloration can also be present in early childhood. By the age of 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or sex hormone deficiency symptoms such as impotence. If the disorder is untreated, heart disease is evident by age 30. Heart failure or disturbances of heart rhythm are usually the cause of death if the disease is not treated. Liver damage and diabetes are less frequent than in type 1 hemochromatosis.