| Literature DB >> 13883803 |
Abstract
A sibship with four cases of hereditary elliptocytic anaemia is described. The condition in this family may have arisen as a mutation in the mother of the sibship; affected members were unable to taste phenylthiocarbamide while normal members were tasters. Experiments with (32)P-orthophosphate in vitro did not show any evidence of biochemical upset as found in hereditary spherocytosis; thus a combination of congenital spherocytosis and elliptocytosis cannot be supported as the cause of the haemolytic state. Clinical evidence of haemolytic disease was accompanied by a tendency to excessive lysis in vitro. Infection may play a part in the precipitation of anaemic crises in this as in other hereditary haemolytic anaemias.Entities:
Keywords: ANEMIA, HEMOLYTIC/genetics
Mesh:
Substances:
Year: 1961 PMID: 13883803 PMCID: PMC480304 DOI: 10.1136/jcp.14.6.615
Source DB: PubMed Journal: J Clin Pathol ISSN: 0021-9746 Impact factor: 3.411