[Juvenile pernicious anemia with congenital intrinsic factor deficiency and intermediate intrinsic factor secretion...

A 11 1/2-year-old girl of Turkish origin showed symptoms and signs of pernicious anaemia with low B12 level in blood but normal gastric acid secretion. There were no antibodies to mucosal cells or intrinsic factor. Quantitative determination of intrinsic factor in gastric juice, done by a RIA method, proved absence of the factor. Both parents had normal values for haemoglobin, normal B12-absorption tests and slightly decreased B12 blood levels. The gastric acid secretion was normal in both, but intrinsic factor in the gastric juice was decreased markedly. These findings support the hypothesis that congenital pernicious anaemia, e.g. congenital absence of intrinsic factor, is transmitted by an autosomal recessive trait.