Inherited protein C deficiency, protein S deficiency and hyperhomocysteineaemia 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 fami...

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Bibliographic Details
Published in:Clinical and laboratory haematology 1999-01, Vol.21 (3), p.211-214
Main Authors: Taylor, C. P. F., Luckit, J. K., Perry, D. J.
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Biological and medical sciences
Diseases of red blood cells
Hematologic and hematopoietic diseases
Hereditary spherocytosis
homocysteine
Medical sciences
protein C
protein S
thrombosis
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Summary: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.
ISSN:0141-9854
1365-2257
DOI:10.1046/j.1365-2257.1999.00209.x