Hereditary Methemoglobinemia in Greece

Abstract

THE FIRST REPORTS of hereditary methemoglobinemia were made before the etiology of the condition was known; among these was a description of methemoglobinemia in four Greek families by Coudonis. 1 More recently it has been possible to clearly distinguish two principle types of methemoglobinemia. The first is caused by any one of several kinds of abnormal hemoglobins which are collectively known as the hemoglobins M, each of which differs from normal hemoglobin by a single amino acid substitution. 2 These abnormal hemoglobins can be detected by electrophoretic means and both the hemoglobin and the methemoglobinemia are inherited as a dominant character. 3 The second principle variety of hereditary methemoglobinemia is caused by the lack of a red cell enzyme, DPNH diaphorase; this disorder can be distinguished by an enzymatic test and is inherited as an autosomal reces-sive. 4 The four Greek families originally described by Coudonis 1 were located once again, and one member of each family was tested to determine the type of methemoglobinemia present.