Familial Pyridoxine‐Responsive Anaemia

Abstract

P yridoxine ‐R esponsive anaemia as a naturally occurring disease in man was first described by Harris, Whittington, Weisman and Horrigan in 1956. Since then 26 further cases have been described in the literature. Most reports concern single cases and suggest that pyridoxine‐responsive anaemia is not a single disease entity but rather a syndrome with variable aetiology. In only three instances could the disease have been inherited. We report here details of a family in which six members suffered from pyridoxine‐responsive anaemia. We have investigated 83 members of the family and studied in detail the six affected members.