Abstract
Objective: To investigate a family with factor VII (FVII) deficiency from Argentina. Patients and Methods: The proposita is a 14-year-old girl who presented with a mild to moderate bleeding tendency. Menorrhagia is controlled with periodical administration of small doses of recombinant FVII concentrate. The mother of the proposita has a similar bleeding tendency. Results: FVII activity in both patients was 20% of normal; FVII antigen was 35% of normal. Molecular biology investigation revealed that the proposita was compound heterozygote between Thr384Met and Arg413Gln. The mother had the same mutations. This was due to the fact that the father of the proposita and her maternal grandfather both carried, in spite of no relation, the same mutation, namely Arg413Gln. Conclusions: The identical defect which presented in the proposita and her mother could be explained by the genetic analysis of the father and maternal grandfather of the proposita who happened to have the same mutation (Arg413Gln).
References
1.
2.
Bergna
LJ
, Dours
MT
, González De Mondini
N
, Martínez Canaveri
AA
. Deficiencia congénita de factor VII. Presentación De 4 casos
. Medicina (B Aires)
. 1981
;41
Suppl
:242
–8
.
[PubMed]
0025-76803.
Nakkache
M
, Zelarayan
K
, Duarte
P
, Riveros
D
. Deficiencia congénita de factor VII: serie de casos. XX Congreso del Grupo Cooperativo Latinoamericano de Hemostasia y Trombosis, XV Congreso del Grupo Cooperativo Argentino de Hemostasia y Trombosis
. Buenos Aires, Argentina
. 2008
.4.
Ramos
A
, Picon
A
, Frogioni
M
, Monaco
S
, Uez Pata
S
, Violi
L
, et al Prophylaxis con r-FVIIa en nino con deficit de FVII y hemorragia intracranea extensa en periodo neonatal
. [Abstract]
. Acta Bioquim Clin Latinoam
. 2010
; Suppl-1
:54
.0325-29575.
Saavedra
H
, Olerto
D
, Serrano
J
, Miranda Soto
R
, Alvarado
M
, Lemble
L
. Deficit de FVII hereditario
. [abstract]
. Hematologia
. 2013
;17
Suppl.
:176
.6.
Guglielmone
H
, Ferrari
S
, Cosi
E
, Minoldo
S
, Alvarez
BM
, Girolami
A
. FVII Deficiency in Argentina: A Compound Heterozygosis between a New Splicing Region Mutation (IVS2-3C[{GT}]A) and FVII Central (Phe328Ser)
. J Hematol Transfus
. 2016
;4
:1049
.2333-66847.
Herrmann
FH
, Wulff
K
, Auerswald
G
, Schulman
S
, Astermark
J
, Batorova
A
, et al; Greifswald Factor FVII Deficiency Study Group
. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene
. Haemophilia
. 2009
Jan
;15
(1
):267
–80
.
[PubMed]
1351-82168.
Arbini
AA
, Bodkin
D
, Lopaciuk
S
, Bauer
KA
. Molecular analysis of Polish patients with factor VII deficiency
. Blood
. 1994
Oct
;84
(7
):2214
–20
.
[PubMed]
0006-49719.
Girolami
A
, Fabris
F
, Dal Bo Zanon
R
, Ghiotto
G
, Burul
A
. Factor VII Padua: a congenital coagulation disorder due to an abnormal factor VII with a peculiar activation pattern
. J Lab Clin Med
. 1978
Mar
;91
(3
):387
–95
.
[PubMed]
0022-214310.
Girolami
A
, Arias
M
, Sueldo
E
, Scoles
G
, Ferrari
S
, Lombardi
AM
. First report of homozygous factor VII Padua (Arg304Gln) defect in a family from Argentina. Hemat. Med. Onc.1:1-5.11.
Girolami
A
, Cosi
E
, Ferrari
S
, Girolami
B
, Lombardi
AM
. Bleeding manifestations in heterozygotes with congenital FVII deficiency: a comparison with unaffected family members during a long observation period
. Hematology
. 2017
Jul
;22
(6
):375
–9
.
[PubMed]
1607-845412.
Girolami
A
, Pontara
E
, Dannhauser
D
, Bertomoro
A
, Ferasin
S
, Piccolo
M
, et al First report of combined factor VII Padua defect and von Willebrand’s disease due to casual association of the two defects
. Blood Coagul Fibrinolysis
. 1993
Feb
;4
(1
):177
–81
.
[PubMed]
0957-523513.
Girolami
A
, Sueldo
E
, Ferrari
S
, Guerrero
G
, Cosi
E
, Arias
M.
Report of the Second Patient with a Homozygous FVII Padua (Arg304GIn) Defect in Northern Argentina. Mathews J. Case Rep. 2017
:3(1)036.14.
Sekiya
A
, Morishita
E
, Maruyama
K
, Asakura
H
, Nakao
S
, Ohtake
S
. [Significant decrease in factor VII activity by tissue thromboplastin derived from rabbit brain in a patient with congenital factor VII deficiency (FVII Padua)]
. Rinsho Ketsueki
. 2012
Mar
;53
(3
):357
–60
.
[PubMed]
0485-143915.
Rigney
T
, Cooley
S
, Kevane
B
, Ryan
K
, Byrne
M
, Ní Áinle
F
. Antenatal identification of factor VII Padua during a healthy pregnancy: implications for labor and delivery
. Case Rep. Perinat. Med.
2014
;3
(2
):111
–3
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