Factor VIII intron-1 inversion: frequency and inhibitor prevalence
نویسندگان
چکیده
منابع مشابه
Frequency of factor VIII intron 1 inversion in a cohort of severe hemophilia A Italian patients.
In the January 2003 issue of this journal, Tizzano EF et al. 1 reported their data on the frequency of the intron 1 inversion of the factor VIII (FVIII) gene in a cohort of Spanish hemophilia A (HA) patients. It seems now well established that the mutation is recurrent in severely HA patients, even though with a low frequency. To date, this mutation has also been investigated in the British 2 a...
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Patients with coagulation factor(s) deficiency who use coagulation therapy are susceptible to forming inhibitors against coagulation factor(s). In this survey we detected factor V and VIII inhibitor in ten patients with combined deficiency of factors V and VIII from north east of Iran (Khorassan province). It was revealed in our survey that eight patients had both factor V and factor VIII i...
متن کاملInversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A.
a significant long-term decrease of MC was documented and AI probably postponed hematologic relapse. This allowed us to perform a second transplantation in both patients.9 Secondary GVHD grade I-III was seen in 5/14 follow-ups and was fatal in one patient. We confirmed that patients with increasing MC have a significantly higher risk of hematologic relapse.1 Continuous CC together with trMC usu...
متن کاملGenotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
متن کاملPrevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A.
INTRODUCTION Patients with severe hemophilia A often develop inhibitors (antibodies) against transfused factor VIII. MATERIAL/METHODS One hundred thirteen Polish patients with severe hemophilia A, who had been treated on demand with cryoprecipitate until 1992 and exclusively with factor VIII concentrates after 1995, were examined for intron 22 inversion by Southern blotting and the presence a...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2006
ISSN: 1538-7933,1538-7836
DOI: 10.1111/j.1538-7836.2006.01884.x