Revisão Revisado por pares

The Hemophilias — From Royal Genes to Gene Therapy

2001; Massachusetts Medical Society; Volume: 344; Issue: 23 Linguagem: Inglês

10.1056/nejm200106073442307

ISSN

1533-4406

Autores

Pier Mannuccio Mannucci, Edward G. D. Tuddenham,

Tópico(s)

Blood Coagulation and Thrombosis Mechanisms

Resumo

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 . . .

Referência(s)