Assuntos
Fator IX/genética , Fator VIII/genética , Hemofilia A/metabolismo , Hemofilia B/metabolismo , Antígenos de Histocompatibilidade Classe II/metabolismo , Interleucina-10/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Adolescente , Criança , Pré-Escolar , Fator IX/imunologia , Fator VIII/imunologia , Feminino , Hemofilia A/genética , Hemofilia A/imunologia , Hemofilia B/genética , Hemofilia B/imunologia , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , TailândiaRESUMO
BACKGROUND: Haemophilia is a lifelong X-linked recessive inherited bleeding disorder. Since the haemophilia management in economically less-developed countries is inadequately provided, prevention of new cases of haemophilia is essentially required. SUBJECTS AND METHODS: A total of 42 pregnancies in 37 women at risk for severe and moderate haemophilia (A = 33, B = 4) were enrolled. The prenatal diagnostic (PND) procedure was performed in 32 women, while 10 women refused further PND procedure after knowing their foetuses were female (n = 8) and male (n = 2). The foetal specimen was obtained through chorionic villus sampling (n = 14), amniocentesis (n = 1) and cordocentesis (n = 17). The status of haemophilia was determined using informative RFLP markers and inversion of intron 22 of the F8 gene, and/or foetal FVIII:C or FIX:C. RESULTS: The final diagnosis revealed normal males (n = 18), haemophilia A males (n = 9), normal females (n = 3) and haemophilia A carrier females (n = 2). All women with affected haemophilia sons requested to terminate their pregnancies except one woman. One of 32 pregnancies (3.1%) had spontaneous abortion. At follow-up after birth, the PND was accurately confirmed in one haemophilia A male, three normal females and two carrier females by laboratory testing, and 18 unaffected normal males by history taking of no bleeding manifestations. However, 10 women who continued their pregnancies after knowing foetal sex turned out to have two haemophilia A males, one normal female, one haemophilia A carrier female and six normal or carrier females. CONCLUSION: The PND of haemophilia could be accurately determined but it was not well accepted by all couples at risk.
Assuntos
Hemofilia A/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Feminino , Humanos , Gravidez , Fatores Sexuais , TailândiaAssuntos
Inibidores dos Fatores de Coagulação Sanguínea/sangue , Fator VIII/antagonistas & inibidores , Fator VIIa/uso terapêutico , Hemofilia A/tratamento farmacológico , Adolescente , Éxons , Fator VIII/genética , Fator VIII/imunologia , Deleção de Genes , Humanos , Tolerância Imunológica , MasculinoAssuntos
Fator VIIa/administração & dosagem , Hemofilia A/tratamento farmacológico , Isoanticorpos/sangue , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Avaliação de Medicamentos , Fator VIII/imunologia , Humanos , Masculino , Proteínas Recombinantes/administração & dosagem , Resultado do TratamentoRESUMO
We report a haemophilia A boy with high inhibitor titre (170 BU) who experienced five life-threatening bleeding episodes during a one-year period from 9 to 21 months. At the age of 22 months, he received rituximab (375 mg m(-2) per dose) at one- and three-week intervals, three courses each and alternative daily treatment with factor VIII concentrate at doses of 100 units kg(-1) for 24 weeks and 50 units kg(-1) for the following 28 weeks. Although the pretreatment inhibitor level of 4.5 BU showed an anamnestic response reaching the maximum level of 200 BU at the 9th week of treatment, it gradually declined to 30 BU at the 22nd week and was constantly maintained at 25-30 BU for the following 30 weeks. Only three bleeding episodes of two haematomas and one haemarthrosis were found during the one-year treatment period. No opportunistic infection occured during this period.
