Factor X deficiency due to a compound heterozygosis between a new mutation (Gla72Asp) in exon 2 and an already known one (Gly154Arg) in exon 5: Factor X Mar del Plata 1).

Factor X deficiency due to a compound heterozygosis between a new mutation (Gla72Asp) in exon 2 and an already known one (Gly154Arg) in exon 5: Factor X Mar del Plata 1). Cardiovasc Hematol Disord Drug Targets. 2018 Dec 11;: Authors: Girolami A, de Paoletti DNG, Nenkies ML, Ferrari S, Guglielmone H Abstract A compound heterozygote due to the association of a new mutation (Gla72Asp) with an already known mutation (Gly154Arg) of the FX gene is reported. The proposita is a 38 year old female who had a moderate bleeding tendency (menorrhagia, epistaxis, easy bruising). The proposita has never received substitution therapy but in the occasion of a uterine biopsy. The mother was asymptomatic but was a heterozygote for the new mutation. The father was asymptomatic but had deserted the family and could not be investigated. After this abandonment the mother of the proposita re-married with an asymptomatic man and she gave birth to a son who was asymptomatic but was also heterozygous for the new mutation. As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation. This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina. PMID: 30539705 [PubMed - as supplied by publisher]
Source: Cardiovascular and Hematological Disorders Drug Targets - Category: Drugs & Pharmacology Tags: Cardiovasc Hematol Disord Drug Targets Source Type: research

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Congenital factor XI (FXI) deficiency is a mild trauma-related bleeding disorder with estimated worldwide prevalence of one per 1 million. The disorder is less frequent in Iran and a few studies have been performed on Iranian patients. In the current study, we assessed molecular, laboratory and clinical features of two Iranian patients with congenital FXI deficiency and their families. Clinical features and demographic data of the patients were assessed by the physician and a staff member trained specifically to deal with patients with bleeding disorders. FXI activity and antigen assays were performed for seven members of ...
Source: Blood Coagulation and Fibrinolysis - Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
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Source: Brazilian Journal of Otorhinolaryngology - Category: ENT & OMF Source Type: research
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Source: Ear, Nose and Throat Journal - Category: ENT & OMF Authors: Tags: Ear Nose Throat J Source Type: research
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Source: ASAIO Journal - Category: Medical Devices Tags: Adult Circulatory Support Source Type: research
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