Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis.
The study of the V617F JAK2 gene mutation has been used to identify the presence of an underlying myeloproliferative disorder (MPD) as the cause of unexplained thrombosis. In a group of 77 consecutive Mexican patients with a clinical marker of a primary thrombophilic condition, we looked for this JAK2 mutation and did not find any individual displaying it. Given these results, we conclude that an undetected MPD is a very improbable cause of thromboses in Mexican mestizos, a population where the prevalence of these disorders has been found to be lower than that found in Caucasian populations. Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD.
Garcés-Eisele
Javier
J
Laboratorios Clínicos de Puebla, Puebla, Mexico.
González-Carrillo
Martha L
ML
Reyes-Núñez
Virginia
V
Ruiz-Argüelles
Guillermo J
GJ
D000328:Adult; D015331:Cohort Studies; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008800:Mexico; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics; D015995:Prevalence; D019851:Thrombophilia / Q000201:enzymology / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics
C507924:JAK2 protein, human; D053614:Janus Kinase 2