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