Women have two X chromosomes. Even if one of the X chromosomes carries the defective gene, the normal gene on the other X chromosome will protect the woman from hemophilia. The gene does not affect them, but they carry it and pass it on to their children. If a woman is a carrier, sh...
In hemophilia, one of the clotting factor proteins normally needed for the blood to clot does not work properly, either because the protein itself is abnormal, or because too little or none of it is being produced.In the vast majority of cases, hemophilia is caused by mutations in a gene ...
Treatment depends on the type and severity of hemophilia. The treatment aims to prevent bleeding episodes mainly inside the head and the joints. The use of gene therapy to replace the defective genes is currently under study. Blood transfusions may be required in case of significant blood loss....
What autosomal gene is MYO7A? What does FOXP2 genetic mutation cause and why? What is the heterozygote of an autosomal recessive condition called? Who can be a carrier of autosomal disorders? Is hemophilia a hereditary disease? What genetic mutation causes Klinefelter syndrome?
What problems are caused to a person who inherits this Ehlers-Danlos syndrome, gene? Is this gene typically inherited from the mother or the father, also describe an experiment that you could use to determine if a new drug is effective at treating the ...
Hemophilia is usually inherited, but it can be caused by problems with the immune system. If you have hemophilia, you may bleed more than usual after trauma or surgery. You may also start bleeding when there doesn’t seem to be a reason. If you have bleeding in your urinary tract, it ...
However, progeria does not affect a child’s intellectual development and motor skills, such as standing, sitting, and walking. What Causes Progeria? Hutchinson-Gilford progeria syndrome is caused by LMNA gene mutations. The LMNA gene produces a protein called lamin A, which plays a significant...
The Rh blood factor is a single-gene trait, with Rh-negative recessive to Rh-positive. Two Rh-positive parents have an Rh-negative child. a. What must be their genotypes? b. What is the probability that their next child will be Rh-pos...
X-linked disorders: These disorders are caused by a mutated gene on the X chromosome. Some examples of X-linked disorders include hemophilia, Duchenne muscular dystrophy, and Fragile X syndrome. Monogenic diseases can range in severity from mild to severe. Some monogenic diseases are fatal, while...
Gene therapy To really cure VWD, gene therapy represents the goal, especially as it seems to be successful for both hemophilia A and B. However, the challenges to express VWF via gene therapy appear quite daunting. A first obstacle relates to its multimerization. Several mouse studies have sh...