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If a female gives birth to a haemophiliac son, either the female is a carrier for the blood disorder or the haemophilia was the result of a spontaneous mutation. [33] Until modern direct DNA testing , however, it was impossible to determine if a female with only healthy children was a carrier or not.
The prevalence of Hemophilia B in the population is about one in 40,000; Hemophilia B represents about 15% of patients with hemophilia. [6] Many women carriers of the disease have no symptoms. [6] However, an estimated 10-25% of women carriers have mild symptoms; in rare cases, women may have moderate or severe symptoms. [6]
Hemophilia, or haemophilia, is an X-linked recessive disorder that impairs the body's control over blood clotting. Haemophilia A and Haemophilia B arise from mutations in the genes for factor VIII and factor IX, respectively. [6] Females with this disease are almost exclusively unaffected, obligate carriers.
It occurs in males and in homozygous females (which is only possible in the daughters of a haemophilic male and a carrier or haemophiliac female [9]). However, mild haemophilia A is known to occur in heterozygous females due to X-inactivation , so it is recommended that levels of factor VIII and IX be measured in all known or potential carriers ...
Sex differences in medicine include sex-specific diseases or conditions which occur only in people of one sex due to underlying biological factors (for example, prostate cancer in males or uterine cancer in females); sex-related diseases, which are diseases that are more common to one sex (for example, breast cancer and systemic lupus erythematosus which occur predominantly in females); [1 ...
Carriers can be female or male as the autosomes are homologous independently from the sex. In carriers the expression of a certain characteristic is recessive. The individual has both a genetic predisposition for the dominant trait and a genetic predisposition for the recessive trait, and the dominant expression prevails in the phenotype.
A female will be affected with haemophilia proper only in the rare circumstance that she inherits mutated X chromosomes from both a haemophiliac father and a carrier or a haemophiliac mother. No case of such double inheritance is known among Queen Victoria's descendants, although there has been at least one symptomatic carrier.
Complete androgen insensitivity syndrome causes a genetic male to have a vagina (often incompletely developed, nearly always blind-ending), breasts, and a clitoris; people with this form are raised as females. [25] Aphallia – a rare condition where a XY male is born without a penis. As of 2017, only 100 cases have been reported in literature ...
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