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1. Universidad Técnica de Ambato
Facultad de Ciencias de la Salud
Medicina 1er Nivel “B”
Evelin Villacís López
Empleo de Ntic´s
Ing. Alex Valarezo
Lunes, 13 de Junio del 2011.
HEMOFILIA
Enfermedad hereditaria caracterizada por la incapacidad de la sangre para formar
coágulos. La enfermedad está causada por la ausencia de determinadas proteínas de la
sangre, llamadas factores, que participan en el fenómeno de la coagulación. La forma más
común, hemofilia A, la padecen un 80% de los hemofílicos, y está originada por un déficit
del factor VIII. En la segunda forma más común, la hemofilia B (enfermedad de Christmas),
existe un déficit del factor IX. El sangrado puede producirse en forma de hematomas
(traumatismos cerrados) o de hemorragias (heridas).
Un 80% de los casos de hemofilia presentan antecedentes familiares; el 20% restante se
debe a mutaciones genéticas espontáneas. La herencia es de tipo recesivo ligado al sexo
por genes transmitidos por el cromosoma X materno. Por tanto, existe un 50% de
probabilidades de que una pareja de hombre sano y mujer portadora tengan un hijo varón
enfermo o una hija portadora. De un padre enfermo y una madre sana todas las hijas
serán portadoras y todos los hijos varones serán sanos. Los varones no pueden transmitir
la enfermedad, y las mujeres portadoras no la padecen. Un caso famoso de transmisión de
hemofilia fue el de la reina Victoria de Inglaterra, cuyas hijas transmitieron la enfermedad
a las casas reales española y rusa.
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Artigo recebido: 24/03/08
Aceito para publicação: 01/07/08
Trabalho realizado pelo Centro de Pesquisas RenèRachou, FIOCRUZ; FundaçãoHospitalar
do Estado de Minas Gerais; Universidade Federal de Minas Gerais, Belo Horizonte, MG
* Correspondência: Departamento de Clínica Médica - Faculdade de Medicina. Avenida
Alfredo Balena, 190 - 2º andar - sala 243. CEP 30130-110 - Belo Horizonte - MG. Tel/FAX:
(31) 3409-9746/45. srezende@medicina.ufmg.br
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0104-
42302009000200029&lang=pt
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