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)

Author(s): Antonio Girolami*, Diana Noemi Garcia de Paoletti, Marcelo Leonardo Nenkies, Silvia Ferrari, Hugo Guglielmone.

Journal Name: Cardiovascular & Hematological Disorders-Drug Targets
(Formerly Current Drug Targets - Cardiovascular & Hematological Disorders)

Volume 19 , Issue 2 , 2019

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Graphical Abstract:


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.

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Article Details

VOLUME: 19
ISSUE: 2
Year: 2019
Page: [169 - 173]
Pages: 5
DOI: 10.2174/1871529X19666181212103944
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