Girolami Antonio, de Paoletti Diana Noemi Garcia, Nenkies Marcelo Leonardo, Ferrari Silvia, Guglielmone Hugo
Department of Medicine, Padua Medical School, Padua, Italy.
Department of Bioquimica CEDEAC-Universidad FASTA, Laboratorio 25 de Mayo, Mar del Plata, Argentina.
Cardiovasc Hematol Disord Drug Targets. 2019;19(2):169-173. doi: 10.2174/1871529X19666181212103944.
Investigation of rare bleeding disorders in Latin-America.
The report of a new case of FX deficiency due to a compound heterozygosis.
Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments.
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 (Gla72Asp). As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation (Gly154Arg).
This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina.
拉丁美洲罕见出血性疾病的调查。
报告一例因复合杂合子导致的FX缺乏症新病例。
采用公认的凝血程序。借助应用生物系统仪器进行DNA测序。
报告了一例因FX基因新突变（Gla72Asp）与已知突变（Gly154Arg）关联而形成的复合杂合子。先证者为一名38岁女性，有中度出血倾向（月经过多、鼻出血、易瘀斑）。先证者从未接受过替代治疗，但在进行子宫活检时接受过。母亲无症状，但为新突变的杂合子。父亲无症状，但已离家出走，无法进行调查。在父亲离家后，先证者的母亲与一名无症状男子再婚，并生下一个儿子，该儿子无症状，但也是新突变（Gla72Asp）的杂合子。因此，可以推测先证者母亲的第一任丈夫为已知突变（Gly154Arg）的杂合子。
这是过去几年在阿根廷报道的第三例FX基因新突变病例。
