Full text in pdf format

Hemophilia in Florianópolis: frequency and carrier detection

Nadir Ferrari

Departamento de Biologia, Universidade Federal de Santa Catarina, 88049 Florianópolis, SC, Brasil

ABSTRACT

A reference center was set up in Florianópolis to record the different types of hemophilia occurring in the State of Santa Catarina and to detect hemophilia A carriers by pedigree study and laboratory tests. One hundred and two persons were tested: 33 hemophiliacs A from 23 families, 4 hemophiliacs B from 4 families, 3 von Willebrand patients from 3 families, 10 definite carriers, 22 probable carriers and 31 persons with negative results. Twenty seven healthy women were used as controls. The following tests were performed: PT, KCCT, Factor VIII.C, Factor IX.C, Factor VIII:Rag and Factor IX:Ag assays. Discriminant analysis was used to analyze the results obtained for the definite carriers and the probable carriers. Eight of the 18 probable carriers were diagnosed as heterozygotes.

Keywords: hemophilia; Florianópolis; frequency; carrier.

REFERENCES

Austen, D.G. and Rhymes, I.L. (1975). A Laboratory Manual of Blood Coagulation. 1st edn. Blackwell, Oxford.

Alexandrino, A.C. (1987). Hemofilia: conseqüências e reações biológicas e sociais, familiares, e evolutivas. Ciênc. Cult. 39: 77-83.

Boyd, Y., Buckle, V.J., Munro, E.A., Choo, K.H., Migeon, B.R. and Craig, I. W. (1984). Assignment of the haemophilia B (9Factor IX) locus to the q26-qter region of the X chromosome. Ann. Hum. Genet. 48:145-152.

Brownlee, G. and Rizza, C. (1985). Clotting factor VIII cloned. Nature 314: 312-317.

Fischer, R.R., Pedrollo, E., Rieger, A. e Roisenberg, I. (1986). Epidemiologia dos defeitos hereditá- rios da coagulação sangüínea no Estado do Rio Grande do Sul. Ciênc. Cult. 38: 947.

Feldman, F. and Rodell, B. (1986). 0 use de anticorpo monoclonal na purificação e produção de fator antihemofßico - fator VIII:C. A Hemofilia no Mundo 3 : 6-8.

Giannelli, F., Choo, K.H., Winship, P.R., Rizza, C.R., Anson, D.S., Rees, D.J.G., Ferrari, N. and Brownlee, G.G. (1984). Characterization and use of an intragenic polymorphic marker for detection of carriers fo haemophilia B (factor IX deficiency). Lancet 1: 239-241.

Gilgenkrantz, S., Briguel, M.E., Mandel, J.L. and Oberle, I. (1996). A case of female hemophilia with a 46XXr karyotype studied with X chromosome DNA probes. Hum. Genet. 72: 157-159.

Gitschier, J., Wood, W.I., Goralka, T.M. and Wion, K.L. (1984). Characterization of the human factor VIII gene. Nature 312: 326-330.

Gitschier, J., Drayna, D. and Tuddenham, E.G.D. (1985). Genetic mapping and diagnosis of haemophilia A achieved through a BcII polymorphism in the factor VIII gene. Nature 314: 738-740.

Hoyer, L.W. (1984). In: Human Blood Coagulation. Haemostasis and Thrombosis. 3rd edn. (Biggs, R. and Rizza, C.R. eds.). Blackwell, Oxford, pp. 57-74.

Kasper, C.K. and Parton, L. (1974). Reproduction in Hemophilia. West. J. Med. 120: 272-277. Laurell, C.B. (1972). Electroimmunoassay. Scand. J. Clin. Lab. Invest., 29(Suppl.124): 21-37.

Lawn, R.M. and Vehar, G.A. (1986). The molecular genetics of hemophilia. Sci. Am. 254: 40-46.

Lawn, R.M., Wood, W.I., Gitschier, J., Wion, K.L., Eaton, D., Vehar, G.A. and Tuddenham, E.G.D. (1986). Cloned factor VIII and the molecular genetics of hemophilia. Cold Spring Harbor Symp. Quant. Biol. II: 365-369.

Ljung, R., Tedgard, U., McNeil, T. and Tedgard, E. (1987). How do carriers of hemophilia experience prenatal diagnosis by fetal blood sampling? Clin. Genet. 31: 297-302.

Lyon, M.F. (1962). Sex chromatin and gene action in the mammalian X-chromosome. Am. J. Genet. 14: 135-148.

Peake, I.R., Furlong, B.L. and Bloom, A.L. (1984). Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency). Lancet 1: 242-243.

Rizza, C.R. and Spooner, R.J.D. (1983). Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: a report on behalf of the directors of haemophilia centres in the United Kingdom. Br. Med. J. 286: 929-933.

Roisenberg, I., Alexandre, C.O.P. and Fisher, R.R. (1985). Comparative longitudinal study of hemophilia during 15 years in Rio Grande do Sul, Brazil. Bol. Soc. Bras. Hematol. VII: 22.

Simpson, N. and Biggs, R. (1962). The inheritance of Christmas factor. Br. J. Hematol. 8:191-203.

Toole, J.J., Knopf, J.L. and Wozney, J.M. (1984). Molecular cloning of a cDNA encoding human antihaemophiliac factor. Nature 312: 342-347.

Wion, K.L., Tuddenham, E.G.D. and Lawn, R.M. (1986). A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res. 14: 45354542.

Wood, W.I., Daniel, J.C., Simonsen, C.C. and Eaton, D.L. (1984). Expression of active human factor VIII from recombinant DNA clones. Nature 312: 330-336.