RT Journal Article
SR Electronic
T1 Hereditary elliptocytic anaemia
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 615
OP 621
DO 10.1136/jcp.14.6.615
VO 14
IS 6
A1 Davidson, R. J. L.
A1 Strauss, W. T.
YR 1961
UL http://jcp.bmj.com/content/14/6/615.abstract
AB 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 32P-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.