HEMOBIOLOGIE
Contributions
Type: Publication Only
Background
Factor VII deficiency is one of the rare inherited bleeding disorders, the frequency is 1/500000. His molecular study is very interesting because of its rarity.
Aims
The objectif of this study was to describe the bleeding tendencies and the variation of factor VII level.
Methods
Retrospective study coducted for 7 years (2008 to 2014) in the west Algeria. 63 patients has been tested for diagnosis of rare bleeding disorder.
we use the assigned categories of clinical bleeding severity of European Network of Rare Bleeding Dsorders:
1. Asymptomatic (no document bleeding episodes).
2. Grade I bleeding (bleeding that occured after trauma or drug ingestion).
3. Grade II bleeding (spontaneous minor bleeding, bruising, ecchymosis, minor wounds, oral cavity bleeding, epistaxis and menorrhagia).
4. Grade III bleeding (spontaneous major bleeding, hematomas, hemarthrosis, central nervous system, gastrointestinal and umbilical cord bleeding).
Results
18 patients (28.57%) diagnosed with factor VII deficiency, 06 patients have factor level <10% classified with severe form, 01 patients had factor level between 10 and 20% classified with moderate form and 11 patients have factor level > 20%, according the classification of Europen Network of Rare Bleeding Disorders.
Regarding the clinical severity 10 patients are asymptomatic (factor level > 30%), 07 patients classified on grade II (factor level between 01 and 40%) and 01 patients on grade III (factor level < 5%). The oral cavity bleeding (25%) and hematoma (17%) are the frequent bleeding symptom in our patients.
The molecular study performed for 05 patients from the same family revealed a mutation c.430+78 G> A and polymorphism IVS7H7 in the homozygous state (02 patients ), in the heterozygous state (03 patients).
Summary
Not corelation found between factor VII level and the clinical severety. This results are according the literature database.
The diagnosis of factor VII deficiency is depending the laboratory testing (level factor depending to the reagent) and the bleeding severety define the disease.
The mutation c.430+78 G> A and polymorphism IVS7H7 are described in the literature and involved in the modulation rates of factor VII.
Keyword(s): Bleeding disorder
Type: Publication Only
Background
Factor VII deficiency is one of the rare inherited bleeding disorders, the frequency is 1/500000. His molecular study is very interesting because of its rarity.
Aims
The objectif of this study was to describe the bleeding tendencies and the variation of factor VII level.
Methods
Retrospective study coducted for 7 years (2008 to 2014) in the west Algeria. 63 patients has been tested for diagnosis of rare bleeding disorder.
we use the assigned categories of clinical bleeding severity of European Network of Rare Bleeding Dsorders:
1. Asymptomatic (no document bleeding episodes).
2. Grade I bleeding (bleeding that occured after trauma or drug ingestion).
3. Grade II bleeding (spontaneous minor bleeding, bruising, ecchymosis, minor wounds, oral cavity bleeding, epistaxis and menorrhagia).
4. Grade III bleeding (spontaneous major bleeding, hematomas, hemarthrosis, central nervous system, gastrointestinal and umbilical cord bleeding).
Results
18 patients (28.57%) diagnosed with factor VII deficiency, 06 patients have factor level <10% classified with severe form, 01 patients had factor level between 10 and 20% classified with moderate form and 11 patients have factor level > 20%, according the classification of Europen Network of Rare Bleeding Disorders.
Regarding the clinical severity 10 patients are asymptomatic (factor level > 30%), 07 patients classified on grade II (factor level between 01 and 40%) and 01 patients on grade III (factor level < 5%). The oral cavity bleeding (25%) and hematoma (17%) are the frequent bleeding symptom in our patients.
The molecular study performed for 05 patients from the same family revealed a mutation c.430+78 G> A and polymorphism IVS7H7 in the homozygous state (02 patients ), in the heterozygous state (03 patients).
Summary
Not corelation found between factor VII level and the clinical severety. This results are according the literature database.
The diagnosis of factor VII deficiency is depending the laboratory testing (level factor depending to the reagent) and the bleeding severety define the disease.
The mutation c.430+78 G> A and polymorphism IVS7H7 are described in the literature and involved in the modulation rates of factor VII.
Keyword(s): Bleeding disorder