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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. [34]
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 female carriers of the disease have no symptoms. [6] However, an estimated 10-25% of female carriers have mild symptoms; in rare cases, female carriers may have moderate or severe symptoms. [6]
Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. [4]
Haemophilia A (or hemophilia A) is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby resulting in significant susceptibility to bleeding, both internally and externally. This condition occurs almost exclusively in males born to carrier mothers due to X-linked recessive inheritance.
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.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Acquired haemophilia A (AHA) is a rare but potentially life-threatening bleeding disorder characterized by autoantibodies directed against coagulation factor VIII.These autoantibodies constitute the most common spontaneous inhibitor to any coagulation factor and may induce spontaneous bleeding in patients with no previous history of a bleeding disorder.
A female who inherits a mutated copy on one X chromosome has also inherited a second X chromosome from the other parent that is likely to carry a non-mutated copy of the gene, capable of directing appropriate clotting. Such a female, with normal clotting but possessing a single mutated copy of the gene, is called a carrier. Males possess only a ...
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