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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 Plata1)

[ Vol. 19 , Issue. 2 ]

Author(s):

Antonio Girolami*, Diana Noemi Garcia de Paoletti, Marcelo Leonardo Nenkies, Silvia Ferrari and Hugo Guglielmone   Pages 169 - 173 ( 5 )

Abstract:


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.

Keywords:

Factor X, deficiency, compound heterozygosis, bleeding, menorrhagia.

Affiliation:

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

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