Familial Hypohaptoglobinemia : A Genetically Determined Trait Segregating from Glucose-6-Phosphate Dehydrogenase Deficiency

1) A family is presented with an inherited deficiency of glucose-6-phosphate dehydrogenase and serum haptoglobin.

2) The inheritance patterns observed are consistent with those postulated for two genetically determined, independently segregating traits.

3) The presence of a benign metabolic defect, familial hypohaptoglobinemia, in individuals with Hp 2-1 and Hp 2-2 phenotypes and the lack of involvement to date of Hp 1-1 phenotypes is consistent with the hypothesis that some modification of the Hp² allele is responsible for the low levels of haptoglobin observed.

4) The term hypohaptogiobinemia, rather than anhaptoglobinemia, is suggested for individuals who manifest a genetically determined depression in the level of circulating haptoglobin.