Inherited protein C deficiency, protein S deficiency and hyperhomocysteinaemia in a patient with hereditary spherocytosis.
We report a family with hereditary spherocytosis in whom there is, in addition, a cluster of genetic predispositions to thrombosis. Although inherited prothrombotic abnormalities are prevalent in the general population, the likelihood of this combination of abnormalities being found in a single family is extremely low. The management of such high risk individuals is discussed.
Taylor
C P
CP
Department of Haematology, Royal Free & University College School of Medicine at UCL, London, UK.
Luckit
J K
JK
Perry
D J
DJ
D000328:Adult; D005260:Female; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications*; D008297:Male; D010375:Pedigree; D020151:Protein C Deficiency / Q000150:complications* / Q000235:genetics; D018455:Protein S Deficiency / Q000150:complications* / Q000235:genetics; D013103:Spherocytosis, Hereditary / Q000150:complications*