X-linked recessive inheritance Typically, females possess two X-chromosomes, and males have one X and one Y-chromosome. Since the mutations causing the disease are X-linked recessive, a female carrying the defect on one of her X-chromosomes may not be affected by it, as the equivalent dominant allele on her other chromosome should express itself to produce the necessary clotting factors, due to X inactivation. Therefore, heterozygous females are just carriers of this genetic disposition. However, the Y-chromosome in the male has no gene for factors VIII or IX. If the genes responsible for production of factor VIII or factor IX present on a male's X-chromosome are deficient there is no equivalent on the Y-chromosome to cancel it out, so the deficient gene is not masked and the disorder will develop. Since a male receives his single X-chromosome from his mother, the son of a healthy female silently carrying the deficient gene will have a 50% chance of inheriting that gene from her and with it the disease; and if his mother is affected with<unk> , he will have a 100% chance of being a<unk> c. In contrast, for a female to inherit the disease, she must receive two deficient X-chromosomes, one from her mother and the other from her father (who must therefore be a<unk> c himself). Hence,<unk>  is expressed far more commonly among males than females, while females, who must have two deficient X-chromosomes in order to suffer<unk> , are far more likely to be silent carriers, survive childhood and to submit each of her genetic children to an at least 50% risk of receiving the deficient gene. However, it is possible for female carriers to become mild<unk> cs due to lyonisation (inactivation) of the X-chromosomes.<unk> c daughters are more common than they once were, as improved treatments for the disease have allowed more<unk> c males to survive to adulthood and become parents. Adult females may experience menorrhagia (heavy periods) due to the bleeding tendency. The pattern of inheritance is criss-cross type. This type of pattern is also seen in colour blindness. A mother who is a carrier has a 50% chance of passing the faulty X-chromosome to her daughter, while an affected father will always pass on the affected gene to his daughters. A son cannot inherit the defective gene from his father. This is a recessive trait and can be passed on if cases are more severe with carrier. Genetic testing and genetic counselling is recommended for families with<unk> . Prenatal testing, such as amniocentesis, is available to pregnant women who may be carriers of the condition. As with all genetic disorders, it is also possible for a human to acquire it spontaneously through mutation, rather than inheriting it, because of a new mutation in one of their parents' gametes. Spontaneous mutations account for about 33% of all cases of<unk>  A. About 30% of cases of<unk>  B are the result of a spontaneous gene mutation. If a female gives birth to a<unk> c son, either the female is a carrier for the blood disorder or the<unk>  was the result of a spontaneous mutation. Until modern direct DNA testing, however, it was impossible to determine if a female with only healthy children was a carrier or not. Generally, the more healthy sons she bore, the higher the probability that she was not a carrier. If a male is afflicted with the disease and has children with a female who is not a carrier, his daughters will be carriers of<unk> . His sons, however, will not be affected with the disease. The disease is X-linked and the father cannot pass<unk>  through the Y-chromosome. Males with the disorder are then no more likely to pass on the gene to their children than carrier females, though all daughters they sire will be carriers and all sons they father will not have<unk>  (unless the mother is a carrier). Severity There are numerous different mutations which cause each type of<unk> . Due to differences in changes to the genes involved, people with<unk>  often have some level of active clotting factor. Individuals with less than 1% active factor are classified as having severe<unk> , those with 1–5% active factor have moderate<unk> , and those with mild<unk>  have between 5% and 40% of normal levels of active clotting factor.
Haemophilia
Pedophilia
Acquired haemophilia
Exophilia
Dysfibrinogenemia
Von Willebrand disease
Harris platelet syndrome
Quebec platelet disorder