Antonio Girolami*, Diana Noemi Garcia de Paoletti, Marcelo Leonardo Nenkies, Silvia Ferrari and Hugo Guglielmone Pages 169 - 173 ( 5 )
Background: Investigation of rare bleeding disorders in Latin-America.
Objectives: The report of a new case of FX deficiency due to a compound heterozygosis.
Methods: Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments.
Results: 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).
Conclusions: This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina.
Factor X, deficiency, compound heterozygosis, bleeding, menorrhagia.
Department of Medicine, Padua Medical School, Padua, Department of Bioquimica CEDEAC-Universidad FASTA, Laboratorio 25 de Mayo, Mar del Plata, Department of Hematologia, Hospital Santa Marina, Tandil, Department of Medicine, Padua Medical School, Padua, Laboratorio de Hematologia, Sanatorio Allende y Departamento de Bioquimica Clinica, Facultad de Ciencias Quimicas, Universidad Nacional de Cordoba, Cordoba