Resumo

LAVAUT SANCHEZ, Kalia. Importance of the diagnosis of carriers in families with history of hemophilia. Rev Cubana Hematol Inmunol Hemoter [online]. 2014, vol.30, n.2, pp. 108-113. ISSN 0864-0289.

Hemophilia is ahereditary bleeding disorderX-linkedthat arises dueto mutationsin the genes offactor VIII(hemophiliaA)andfactor IX(hemophiliaB), which causes a decrease orfunctional deficiencyof these proteins inplasma.Their frequenciesare 1 in5 000malesand1 in30 000live births, respectively. It affectsmales almost exclusively, andfemale carriershave a50 % riskof transmitting thedisease to their children. So, it isimportantin familieswith history of hemophilia that carriers are identifiedthroughgenetic counseling, which provides informationabout the disease, makingpedigree,calculation of therisk of recurrence, molecular diagnosis andpossibility ofprenatal diagnosis inpregnantcarriers.It is imperativethat genetic counselingconstitutesan educationaland informative process,never as an imposition.

Palavras-chave : hemophilia; carriers; Factor VIII; Factor IX.

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