Atransferrinemia

Atransferrinemia is an extremely rare inherited disorder in which the blood carries almost no transferrin, the protein that moves iron from one part of the body to another. Without it, iron cannot reach the immature red blood cells in the bone marrow, so affected people develop a severe anemia in which the red cells are small and pale. At the same time the gut absorbs far more iron than the body needs, and the surplus settles in organs such as the liver, heart, joints, pancreas, kidneys and thyroid. Over time this iron overload can scar the liver, bring on arthritis and an underactive thyroid, and weaken the heart. Children often show slow growth and repeated infections. The condition is caused by changes in the TF gene on chromosome 3 and is passed on as an autosomal recessive trait, so it appears when a child inherits a faulty copy from each parent. A milder form, called hypotransferrinemia, comes from changes in the same gene. Fewer than a dozen families have been reported in the medical literature, and the condition was first described in 1961. Treatment has relied on infusions of plasma or purified transferrin, together with supportive care.