The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors

Servei de Genetica, Hospital de Sant Pau, Padre Claret 167, 08025, Barcelona, Spain. etizzano@hsp.santpau.es BACKGROUND AND OBJECTIVES. The modulation of disease severity in hemophilia A (HA) patients may be related to the co-inheritance of mutations in genes with a known thrombotic effect such as f...

Full description

Saved in:
Bibliographic Details
Published in:Haematologica (Roma) 2002-03, Vol.87 (3), p.279-285
Main Authors: Tizzano, EF, Soria, JM, Coll, I, Guzman, B, Cornet, M, Altisent, C, Martorell, M, Domenech, M, del Rio, E, Fontcuberta, J, Baiget, M
Format: Article
Language:English
Subjects:
Adolescent
Adult
Alleles
Biological and medical sciences
Blood coagulation. Blood cells
Child
Child, Preschool
Chromosome Inversion
Factor V - analysis
Fundamental and applied biological sciences. Psychology
General aspects, investigation methods, hemostasis, fibrinolysis
Genetic Testing
Hematologic and hematopoietic diseases
Hemophilia A - diagnosis
Hemophilia A - genetics
Hemophilia A - immunology
Hemorrhage - blood
Hemorrhage - etiology
Hemorrhage - genetics
Humans
Infant
Introns - genetics
Isoantibodies - blood
Medical sciences
Molecular and cellular biology
Platelet diseases and coagulopathies
Prevalence
Prothrombin - analysis
Prothrombin - genetics
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Servei de Genetica, Hospital de Sant Pau, Padre Claret 167, 08025, Barcelona, Spain. etizzano@hsp.santpau.es BACKGROUND AND OBJECTIVES. The modulation of disease severity in hemophilia A (HA) patients may be related to the co-inheritance of mutations in genes with a known thrombotic effect such as factor V Leiden (FVL) and prothrombin. In the Spanish population, the prothrombin 20210A (PT20210A) allele is the most prevalent genetic risk factor for venous thromboembolism. DESIGN AND METHODS. We investigated the presence of both mutations in a cohort of 265 hemophiliac patients divided into two groups: I) 140 unrelated patients with moderate and mild HA and II) 125 unrelated patients with severe HA (83 carrying an inversion of intron 22). RESULTS. In group I, 4 patients had the FVL (2.8% vs. 2.98% controls) and 5 had the PT20210A (3.6% vs. 6.46% controls). In group II, two patients with inversion had the FVL (1.6%) and PT20210A was found in 10 patients (8%), five of them with inversion of intron 22 without inhibitors. One of these patients had the FVL and PT20210A mutations concomitantly. In the subgroup of patients with inversion who were carriers of the PT20210A, three parameters i.e. spontaneous bleeding (p=0.008), factor VIII utilization (p=0.016) and number of hemophilic arthropathies (p
ISSN:0390-6078
1592-8721