Gene mutations may have some evolutionary significance. Before we discuss what can be evolutionary meaning of thrombophilia, we’ll look at the importance of gene changes in evolution in general.
Generally, mutations in the genotype of individuals lead to changes in the occurrence of gene alleles in population. Change in allele frequency is evolutionary step of the population and therefore mutations are the starter of the evolution of species. In connection with the evolution, mutations operate in synergy with the action of the natural selection of members of the population according to their phenotypes.
Evolutionary significance may have only those mutations which have for their wearer in the intended environment positive selection importance. Mostly, however, they deprive its wearers, damaging or killing them.
So what can be evolutionary meaning of thrombophilia?
Can the emergence of thrombophilia have some evolutionary significance? Scientists believe that it probably had as in the case of Leiden mutation. Population genetic research has revealed that Leiden mutation appeared roughly 35 thousand years ago in northern Europe in particular, in the white individual of Caucasian origin. Occurrence of this mutation is highest in Scandinavia and northern areas of Europe. Towards the south, the incidence of mutations decreases, while the lowest rate is in Italy and Spain. The incidence of this dominantly inherited mutation in factor V is in Europe and North America in whites 3-15% of the healthy population and in other parts of the world it occurs rather rarely. Elsewhere it is stated that the occurrence of Europeans and North Americans is 5%. Mutation of F V Leiden in the Asian and black population is virtually absent.
Scientists suspect that this thrombophilic mutation brought to its bearers some genetic advantage. They believe that serious bleeding injuries resulted in less bleeding in this type of mutation and blood loss of women at the time of birth was more moderate. A long time ago, this could be a meaning of mutagenesis of thrombophilia. Unfortunately, nowadays this mutation does not bring any advantage, because we no longer live in the tundra or taiga, human life has significantly extended, and this mutation is therefore now a disadvantage for the wearer.