Open AccessFour Hypotheses About the Different Possibility Between Actual and Theoretic Haemophilia Incidence
Author(s) -
Ke Ning
Publication year - 2020
Publication title -
iop conference series. earth and environmental science
Language(s) - English
Resource type - Journals
eISSN - 1755-1307
pISSN - 1755-1315
DOI - 10.1088/1755-1315/512/1/012083
Subject(s) - chromosome , haemophilia , incidence (geometry) , gene , genetics , blood clotting , disease , x chromosome , skewed x inactivation , x inactivation , clotting factor , biology , y chromosome , silence , medicine , pathology , mathematics , philosophy , geometry , aesthetics
Haemophilia is a disease caused by the lack of clotting factors in the blood. Currently, the only treatment is blood transfusion. To avoid this situation, patients need to do blood transfusion periodically to ensure they have enough clotting factors. Otherwise, hemophilia is an X-chromosome disease so that X-chromosome inactivation may play a role in inheriting. Theoretically, the incidence of female carriers is 50%, but in fact, it is not. There are four hypotheses to help to explain the weird phenomenon. Also, these four hypothesis could probably inspire people some new treatments of hemophilia. The first explanation is about chromosome leaking, which means not all of the genes on the silenced chromosome get silenced, a small part of genes can still be expressed. The second hypothesis is X-chromosome biased selection, which means that X-chromosomes chosen is not randomly. It tends to silence the chromosome with hemophilia genes, not another one. The third guess is key regulators, which can adjust the X-chromosome inactivation so that it ensures the X-chromosome with hemophilia genes gets silenced. Afterward, the fourth one is about the mosaic, which talks about the majority part of cells working like the normal cells to produce clotting factors. In conclusion, the ratio is not half to half might be caused by these four hypothesis.