Type B haemophilia in women. reports of two cases
Keywords:
Coagulation, Hemophilia B, Metrorrhagia, MutationAbstract
The deficiency of IX factor of the coagulation its known as hemophilia type B, is an orphaned disease, very infrequent in the Colombian population. Is linked to the sexual chromosome X being the carrying women of the disease and the men suffer the rigors of severity. 2 cases of women with deficiency of IX factor (FIX), are described, whose initial symptoms were metrorrhagia and epistaxis with slight levels of deficit, in which the periodic application of FIX had good result in morbidity and quality of life.
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Saxena R, Gupta M, Gupta PK, Kashyap R, Choudhry VP, Bhargava M. Los trastornos he- reditarios de las mujeres indias con menorra- gia sangrado. Hemofilia. 2003; 9:193-6.
Bolton-Maggs PH, Pasi KJ. Haemophilias A and B. Lancet. 2003; 361:1801-9.
Kasper C. Trastornos hereditarios de los fac- tores de la coagulación, diagnóstico y trata- miento; Federación Mundial de Hemofilia; 2004.
Rizza CR, Rhymes IL, Austne DE, Kernoff PB, Aroni SA. Detection of carriers of haemo- philia: a blind study Br J Haematol. 1975; 30:447-56.
Mishra KL. Hereditary bleeding disorder, fac- tor IX deficiency in females: a case series. Ca- ses Journal. 2009; 2:8940.
Rodeghiero F. Management of menorrhagia in women with inherited bleeding disorders: general principles and use of desmopressin Hemophilia. 2008; 14 (Supplement 1):21-30.
Armentano D, Arthur RT, Darlingtoni G, Savio LCW. Expression of human factor IX in rab- bit hepatocytes by retrovirus-mediated gene transfer: Potential for gene therapy of hemo- philia B. Proc Natl Acad Sci. 1990; 87:6141-5.
Pitney WR, Brozovic M. From Quantitati- ve assay of coagulation factors. In Practical Hematology. 6th edition. Edited by Dacie JV, Lewis SM. Edinburgh: Churchill Livingstone; 1984:230-2.
Kouides PA, Phatak PD, Burkart P, Braggins C, Cox C, Bernstein Z, Belling L, Holmberg P, Maclaughlin W, Howard F. Gynecological and obstetrical morbidity in women with type I von Willebrand disease, results of a patient survey. Hemophilia. 2000; 6:643-8.
Chen SH, Scott CR, Edson JR and Kurachi K. An insertion within the factor IX gene: he- mophilia BEl Salvador. Am J Hum Genet. Apr 1988; 42(4):581-4.
Borowski M, Furie BC, Goldsmith GH, Furie B. Metal and phospholipid binding properties of partially carboxylated human prothrom- bin variants. J Biol Chem. 1985; 260:9.258- 64.
Vivian C, Wan YCV, Ben Y, Chim CS, Chan TK. Hemophilia B in a Female Carrier Due to Skewed Inactivation of the Normal X-Chro- mosome. American Journal of Hematology. 1998; 58:72-6.
Plug I, Mauser-Bunschoten EP, Bröcker- Vriends AH, Van Amstel HK, Van DerR Bom JG, Van Diemen-Homan JE, et al. Bleeding in carriers of hemophilia. Blood. 2006; 108:52- 6.
Wahlber T. Carriers and non carriers of hae- mophilia. Evaluation of bleeding symtoms re- gistered by self-administered questionnaire with binary questions. Thrombosis Research Journal. 1982; 25:415-22.
