Estudio familiar de las hemofilias A y B: 5 a？os de experiencia en la detección de portadoras

hemophilia is a congenital disease of coagulation disorder and it is a recessive disorder linked to x-chromosome. the molecular study is conducted by indirect studies due to it is caused by heterogeneous mutations in gen of fviii and fix in 40 families with hemophilia a (ha) and 10 with hemophilia b (hb). dna extraction was carried out by saline precipitation method in 293 blood samples and 19 samples of amniotic fluid, as well as the analysis of st14, bcl i and hind iii polymorphism for the ah and taq i, xmn i and dde i for bh. the pcr technique was used. in the caser of ah it was possible to achieve a 35 % of information for st14 and hind iii and a 32.5 % for bcl. dde polymorphism supplied more information for bh for a 33 %; whereas the taq i represented the 10 % of information and xmn i the 0 %. we verified that from the families analyzed with ha, in 23 of them we there was information. besides, in 4 families affected by hb there was information. a total of 19 prenatal diagnoses were made with a previous determination of fetus sex, including 3 males ill.