Congenital deficiencies and abnormalities of prothrombin

Girolami, Antonio; Scarano, L; Saggiorato, Graziella; Girolami, Bruno; Bertomoro, Antonella; Marchiori, Antonio

doi:10.1097/00001721-199810000-00001

Cited by 62 publications

(65 citation statements)

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“…Bleeding manifestations in the 26 cases of hypoprothrombinaemia reviewed by Girolami were similar to the Iranian series and again mucosal bleeding, soft tissue bleeding and haemarthrosis were relatively common [48]. There were also three reported cases of intracerebral bleeding.…”

Section: Clinical Phenotypessupporting

confidence: 69%

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The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

et al. 2004

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Summary.The rare coagulation disorders are heritable abnormalities of haemostasis that may present significant difficulties in diagnosis and management. This review summarizes the current literature for disorders of fibrinogen, and deficiencies of prothrombin, factor V, FV + VIII, FVII, FX, the combined vitamin K-dependent factors, FXI and FXIII. Based on both collective clinical experience and the literature, guidelines for management of bleeding complications are suggested with specific advice for surgery, spontaneous bleeding, management of pregnancy and the neonate. We have chosen to include a section on Ehlers-Danlos Syndrome because haematologists may be consulted about bleeding manifestations in such patients.

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Section: Clinical Phenotypessupporting

confidence: 69%

“…Prior to the publication of this series only 26 cases of prothrombin deficiency and 22 cases with other prothrombin abnormalities had been described in the world literature [48].…”

Section: Clinical Phenotypesmentioning

confidence: 99%

The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

et al. 2004

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“…Whether this is because of chance geographical distribution on to a genetic background remains to be clarified. The observation that prothrombin deficiency is relatively frequent in populations with a Latin background even outside Latin America favours the second hypothesis [7,31].…”

Section: Discussionmentioning

confidence: 96%

A family with factor X deficiency from Argentina

Girolami

Molina²,

Galletti³

et al. 2016

Blood Coagulation &Amp; Fibrinolysis

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The objective was to investigate a family from Argentina. The proposita was a 51-year-old woman who had a moderate bleeding tendency. Some of her children showed a mild bleeding tendency. Her mother and the husband were asymptomatic. Clotting, immunological and molecular biology techniques were used. Partial thromboplastin, prothrombin, Russell Viper venom-clotting times were moderately prolonged in the proposita, whereas they were slightly prolonged in the children and in her mother. Factor X (FX) activity was about 2-3% of normal in all assay systems. FX antigen was less than 5%. Other clotting factors and platelet were normal. Genetic analysis showed a compound heterozygosis: combination of a 'new' mutation (Gln138Arg) with an already known mutation (Glu350Lys). The children had intermediate FX levels (35-63% of normal) and were carriers of one of the two mutations present in the proposita. This is the first observation of a FX deficiency in Argentina.

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“…It is inherited in an autosomal recessive pattern and usually is caused by missense mutations in the prothrombin gene [2]. Bleeding complications do not always correlate with the degree of factor deficiency and can vary considerably [3]. Because of the infrequency of the disease, the diagnosis is often overlooked and the standard of treatment to prevent peripartum complications in women is unknown.…”

Section: Discussionmentioning

confidence: 99%

A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female

Harel

Shani

Donohoe

2017

Blood Coagulation &Amp; Fibrinolysis

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Hereditary prothrombin deficiency is an autosomal recessive disorder with an estimated incidence of 1 in 2 million . Presentation of the disease is variable; however, it is usually associated with moderate to severe bleeding tendencies including muscle hematomas, hemarthrosis, intracranial, mucosal, and postoperative bleeding. Here we report a case of a 35-year-old pregnant woman with congenital hypoprothrombinemia and idiopathic thrombocytopenic purpura, review the literature, and discuss its epidemiology, presentation, diagnosis, and treatment.

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Congenital deficiencies and abnormalities of prothrombin

Cited by 62 publications

References 0 publications

The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

A family with factor X deficiency from Argentina

A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female

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