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Lithuanian Hemophilia A and B Register Comprising Phenotypic and Genotypic Data

  • Conference paper
30th Hemophilia Symposium Hamburg 1999

Abstract

Hemophilia A (HA) and B (HB) are two X-linked recessive bleeding disorders caused by deficiencies of the corresponding coagulation factors VIII (FVIII) and IX (FIX). Affected individuals develop a variable degree of hemorrhaging, predominantly in joints and muscles. The severity of bleeding symptoms relates to the residual activity of clotting factors. Thus, patients with severe disease (FVIII:C/FIX:C<0.01 IU/dl) usually experience recurrent spontaneous bleeding episodes while mildly affected patients (FVIII:C/FIX:C >0.05 IU/dl) only bleed upon provocation.

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© 2001 Springer-Verlag Berlin Heidelberg

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Ivaskevicius, V. et al. (2001). Lithuanian Hemophilia A and B Register Comprising Phenotypic and Genotypic Data. In: Scharrer, I., Schramm, W. (eds) 30th Hemophilia Symposium Hamburg 1999. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18240-2_17

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  • DOI: https://doi.org/10.1007/978-3-642-18240-2_17

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-67677-5

  • Online ISBN: 978-3-642-18240-2

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