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A family with factor X deficiency from Argentina: a compound heterozygosis because of the combination of a new mutation (Gln138Arg) with an already known one (Glu350Lys)

Girolami, Antonio; Molina, Maria Angelica; Galletti, Maria Laura Lopez; Ferrari, Silvia; Sambado, Luisa; Guglielmone, Hugo

Blood Coagulation & Fibrinolysis: September 2016 - Volume 27 - Issue 6 - p 732–736
doi: 10.1097/MBC.0000000000000563
MUTATION REPORT
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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.

aUniversity of Padua Medical School, Department of Medicine, Padua, Italy

bFacultad de Ciencias Quimicas, Universidad Nacional de Cordoba, Sanatorio Allende, Cordoba

cServicio de Hematologia, Hospital Ntra Sra de la Misericordia, Cordoba, Argentina

Correspondence to Prof. Antonio Girolami, Department of Medicine, Via Ospedale 105, Padua 35128, Italy Tel: +0039 049 8213026; fax: +0039 049 857391; e-mail: antonio.girolami@unipd.it

Received 22 December, 2015

Revised 23 February, 2016

Accepted 26 February, 2016

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