The hemophilias—from royal genes to gene therapy

PM Mannucci, EGD Tuddenham - New England Journal of …, 2001 - Mass Medical Soc
PM Mannucci, EGD Tuddenham
New England Journal of Medicine, 2001Mass Medical Soc
Of the various types of hemophilia, the most common of these lifelong bleeding disorders
are due to an inherited deficiency of factor VIII or factor IX (Table 1). The genes for these
blood coagulation factors lie on the X chromosome, and when mutated, they cause the X-
linked recessive traits hemophilia A and B. Since these disorders are X-linked, they usually
occur in males. Usually, the affected boy has inherited the mutant gene (XH) from his carrier
mother (XH/X), but about 30 percent of cases arise from a spontaneous mutation, and there …
Of the various types of hemophilia, the most common of these lifelong bleeding disorders are due to an inherited deficiency of factor VIII or factor IX (Table 1). The genes for these blood coagulation factors lie on the X chromosome, and when mutated, they cause the X-linked recessive traits hemophilia A and B. Since these disorders are X-linked, they usually occur in males. Usually, the affected boy has inherited the mutant gene (XH ) from his carrier mother (X H/X ), but about 30 percent of cases arise from a spontaneous mutation, and there is . . .
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