Inherited factor VII deficiency
نویسندگان
چکیده
منابع مشابه
Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy
Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition-even in homozygous subjects-to severe life-threatening bleedings (central nervous system, gastroi...
متن کاملFactor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency.
A family with a peculiar defect of factor VII is described. The propositi, a brother and sister, were born of a nonconsanguineous marriage and presented a mild to moderate bleeding tendency since childhood (epistaxis, excessive bleeding after tooth extraction). The coagulation pattern was characterized by a mildly prolonged prothrombin time, normal partial thromboplastin time, and normal Stypve...
متن کاملFactor VII deficiency and pregnancy: a case report and review of literature.
Factor VII deficiency is one of the 'rare inherited disorders of coagulation.' Few cases of Factor VII deficiency have been reported during pregnancy, a state which could potentially cause fatal haemorrhage. Here we report a case of a pregnant lady with a history of heavy menorrhagia and multiple first pregnancy failures. Delivery was carried out via Caesarean section due to non-reassuring foet...
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1. Perry DJ. Factor VII deficiency. Br J Haematol 2002;118: 689-700. 2. Cooper DN, Millar DS, Wacey A, Banner DW, Tuddenham EGD. Inherited factor VII deficiency: molecular genetics and pathophysiology. Thromb Haemost 1997;78:151-60. 3. Pinotti M, Etro D, Bindini D, Papa ML, Rodorigo G, Rocino A, et al. Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII defici...
متن کاملCoexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings
We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy,...
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