Two de novo factor VIII gene mutations in the family of an isolated severe haemophilia A patient

被引:1
|
作者
Kapsimali, Z. [1 ]
Pavlova, A. [2 ]
Pergantou, H. [1 ]
Adamtziki, E. [1 ]
Oldenburg, J. [2 ]
Platokouki, H. [1 ]
机构
[1] Aghia Sophia Childrens Hosp, Haemostasis Unit, Haemophilia Ctr, Athens, Greece
[2] Univ Bonn, Dept Expt Haematol & Transfus Med, Bonn, Germany
关键词
INVERSION; MOSAICISM;
D O I
10.1111/j.1365-2516.2011.02609.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:E3 / E4
页数:2
相关论文
共 50 条
  • [31] Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe haemophilia a phenotype
    Oldenburg, J
    Schröder, J
    Schmitt, C
    Brackmann, HH
    Schwaab, R
    THROMBOSIS AND HAEMOSTASIS, 1998, 79 (02) : 452 - 453
  • [32] Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A
    De Brasi, C
    Candela, M
    Cermelj, M
    Slavutsky, I
    Larripa, I
    Bianco, RP
    Pinto, MD
    HAEMOPHILIA, 2000, 6 (01) : 21 - 22
  • [33] Severe haemophilia A in southern France: Detection of three novel mutations and analysis of factor VIII transcripts
    Maugard, C
    Tuffery, S
    AguilarMartinez, P
    Gris, JC
    Schved, JF
    Demaille, J
    Claustres, M
    THROMBOSIS AND HAEMOSTASIS, 1997, : PS927 - PS927
  • [34] Sclerotherapy of esophageal varices in severe haemophilia a patient and factor VIII high titre inhibitor
    Szczepanik, A. B.
    Dabrowski, W. P.
    Szczepanik, A. M.
    Jaskowiak, W.
    Pielacinski, K.
    Misiak, A.
    HAEMOPHILIA, 2013, 19 : 73 - 74
  • [35] Continuous infusion of recombinant porcine factor VIII for neurosurgical management of intracranial haemorrhage in a patient with severe haemophilia A with factor VIII inhibitor
    Ruan, Gordon J.
    Mao, Jimmy J.
    Sytsma, Terin T.
    Akogyeram, Ivy I.
    Wang, Yucai
    Ashrani, Aneel A.
    Pruthi, Rajiv K.
    HAEMOPHILIA, 2020, 26 (03) : E141 - E144
  • [36] Optimizing efficacy of factor VIII prophylaxis for severe haemophilia A
    Fischer, K.
    HAEMOPHILIA, 2011, 17 : 9 - 15
  • [37] Haemophilia B in a female resulting from two de novo single base substitutions in the factor IX gene
    Costa, JM
    Fressinaud, E
    David, A
    Moisan, JP
    Meyer, D
    Lavergne, JM
    Vidaud, M
    THROMBOSIS AND HAEMOSTASIS, 1997, : PS944 - PS944
  • [38] Rituximab in the treatment of alloimmune factor VIII and IX antibodies in two children with severe haemophilia
    Mathias, M
    Khair, K
    Hann, I
    Liesner, R
    BRITISH JOURNAL OF HAEMATOLOGY, 2004, 125 (03) : 366 - 368
  • [39] Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients
    Santacroce, Rosa
    Leccese, Angelica
    Trunzo, Roberta
    Lassandro, Giuseppe
    Giordano, Paola
    Ettorre, Cosimo
    Antoncecchi, Stefano
    Cantori, Isabella
    Dragani, Alfredo
    Belvini, Donata
    Salviato, Roberta
    Margaglione, Maurizio
    THROMBOSIS RESEARCH, 2015, 135 (05) : 1031 - 1034
  • [40] Molecular analysis of moderate and mild Haemophilia A in Iranian patients: New mutations in the factor VIII gene
    Lari, GR
    Moghadam, F
    Rassoulzadegan, M
    Shams, S
    Zomorodipour, A
    Lavergne, JM
    Ala, F
    THROMBOSIS RESEARCH, 2005, 115 : 136 - 137