Universidad Tcnica

de Ambato
Facultad de Ciencias de la Salud
Medicina 1er Nivel B
Evelin Villacs Lpez
Empleo de Ntics
Ing. Alex Valarezo
Lunes, 13 de Junio del 2011.

HEMOFILIA
Enfermedad hereditaria caracterizada por la incapacidad de la sangre
para formar cogulos. La enfermedad est causada por la ausencia de
determinadas protenas de la sangre, llamadas factores, que participan
en el fenmeno de la coagulacin. La forma ms comn, hemofilia A, la
padecen un 80% de los hemoflicos, y est originada por un dficit del
factor VIII. En la segunda forma ms comn, la hemofilia B (enfermedad
de Christmas), existe un dficit 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 genticas espontneas. 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 varn
enfermo o una hija portadora. De un padre enfermo y una madre sana
todas las hijas sern portadoras y todos los hijos varones sern sanos.
Los varones no pueden transmitir la enfermedad, y las mujeres
portadoras no la padecen. Un caso famoso de transmisin de hemofilia
fue el de la reina Victoria de Inglaterra, cuyas hijas transmitieron la
enfermedad a las casas reales espaola y rusa.
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Artigo
recebido:
24/03/08
Aceito para publicao: 01/07/08
Trabalho realizado pelo Centro de Pesquisas RenRachou, FIOCRUZ;
FundaoHospitalar do Estado de Minas Gerais; Universidade Federal de
Minas
Gerais,
Belo
Horizonte,
MG
* Correspondncia: Departamento de Clnica Mdica - Faculdade de
Medicina. Avenida Alfredo Balena, 190 - 2 andar - sala 243. CEP 30130-

110 - Belo Horizonte srezende@medicina.ufmg.br

MG.

Tel/FAX:

(31)

3409-9746/45.

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S010442302009000200029&lang=pt

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