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ISSN 0016-3813 (Print)

2013, Number 3

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Gac Med Mex 2013; 149 (3)

Hemophilia

García-Chávez J, Majluf-Cruz A

Language: Spanish
References: 71
Page: 308-321
PDF size: 155.20 Kb.


ABSTRACT

Hemophilia is a devastating inherited disease with an X-linked recessive pattern. Genes encoding for the hemostatic factors VIII and IX are located in the X chromosome. Specific mutations in these genes are responsible for two different diseases called hemophilia A (HA) or B (HB). Because hemophilia has a recessive pattern it is clinically evident only in men being women the carriers of the disease. It is estimated that almost 6,300 hemophiliacs live in Mexico. Derived from information from international registries we know that differences in the access to treatment are responsible for the different evolution patterns observed in the patients. It should be mentioned that only 30% of the patients worldwide receive an optimal treatment. Hemophilia represents a limitation for all aspects of life and despite its low incidence it severely impacts the health systems. Primary prophylaxis is the gold standard of the treatment because it lowers the incidence of hemarthrosis, improves the quality of life and, perhaps, reduces the risk for developing inhibitors. In adult patients the dilemma is how to reach optimal prophylaxis at the lowest cost as possible. This review attends to the general aspects of the disease focusing on those related to the diagnosis and treatment.


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