[Congenital atransferrinemia]

Abstract

Congenital atransferrinemia was first diagnosed at the age of 11 months in a now 27-year-old woman. Until she was aged 14 years treatment with human transferrin was irregular and, as it turned out, inadequate. But since then she has regularly received human transferrin (1 g monthly) and deferoxamine (500 mg twice weekly). Despite this she developed haemosiderosis affecting heart, liver, hypophysis, thyroid and the locomotor apparatus. This case report demonstrates the need of early diagnosis and treatment of congenital atransferrinemia to prevent the mentioned complications.