Hereditary ovalocytosis with compensated haemolysis.
The clinical and laboratory phenotype of compensated haemolysis in a patient with hereditary ovalocytosis is reported. Clinical presentation was intermittent jaundice and abdominal pain due to pigment gall stones. Haematological analysis revealed an absolute reticulocytosis with an otherwise normal full blood count and biochemical evidence of haemolysis. Variable results were observed with blood grouping reagents. The patient's red cells were stomatocytic ovalocytic, rigid, resistant to malarial parasite invasion, defective in anion transport, and had the characteristic two linked mutations in the red cell band 3 gene.
Reardon
D M
DM
Department of Haematology, Addenbrooke's Hospital, Cambridge.
Seymour
C A
CA
Cox
T M
TM
Pinder
J C
JC
Schofield
A E
AE
Tanner
M J
MJ
D000328:Adult; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics*; D004612:Elliptocytosis, Hereditary / Q000097:blood* / Q000235:genetics; D004912:Erythrocytes / Q000473:pathology; D006461:Hemolysis / Q000502:physiology*; D006801:Humans; D008297:Male; D009154:Mutation / Q000502:physiology
D001457:Anion Exchange Protein 1, Erythrocyte