A large deletion, spanning exons 1 to 25 of F8 gene, and a high-titer factor VIII inhibitor, in severe hemophilia A

被引:1
作者
Mousavi, Sayed Hamid [1 ,2 ]
Mesbah-Namin, Seyed Alireza [3 ]
Zeinali, Sirous [4 ]
Jazebi, Mohammad [5 ]
Dabbagh, Ali [6 ]
Hosseini, Sayed Mohammad Reza [7 ]
Zafarghandi Motlagh, Fatemeh [8 ]
Shiravand, Yavar [9 ]
Dorgalaleh, Akbar [9 ]
机构
[1] Kateb Univ, Dept Clin Biochem, Fac Med Sci, Kabul, Afghanistan
[2] Afghanistan Natl Char Org Special Dis ANCOSD, Kabul, Afghanistan
[3] Tarbiat Modares Univ, Dept Clin Biochem, Fac Med Sci, Tehran, Iran
[4] Pasteur Inst Iran, Biotechnol Res Ctr, Iranian Mol Med Network, Tehran, Iran
[5] Iranian Comprehens Hemophilia Care Ctr ICHCC, Tehran, Iran
[6] Shahid Beheshti Univ Med, Anesthesiol Dept, Anesthesiol Res Ctr, Tehran, Iran
[7] Ghalib Univ, Dept Publ Hlth, Kabul, Afghanistan
[8] Kawsar Human Genet Res Ctr, Dr Zeinalis Med Genet Lab, Tehran, Iran
[9] Iran Univ Med Sci, Sch Allied Med, Dept Hematol & Blood Transfus, Tehran, Iran
关键词
bleeding; deletion; hemophilia; inhibitor; mortality;
D O I
10.1111/ijlh.13174
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:E138 / E140
页数:3
相关论文
共 10 条
  • [1] The identification and classification of 41 novel mutations in the factor VIII gene (F8C)
    Cutler, JA
    Mitchell, MJ
    Smith, MP
    Savidge, GF
    [J]. HUMAN MUTATION, 2002, 19 (03) : 274 - 278
  • [2] A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors
    Fujita, J.
    Miyawaki, Y.
    Suzuki, A.
    Maki, A.
    Okuyama, E.
    Murata, M.
    Takagi, A.
    Murate, T.
    Suzuki, N.
    Matsushita, T.
    Saito, H.
    Kojima, T.
    [J]. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2012, 10 (10) : 2099 - 2107
  • [3] The molecular basis of hemophilia A: Genotype-phenotype relationships and inhibitor development
    Goodeve, AC
    Peake, IR
    [J]. SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2003, 29 (01) : 23 - 30
  • [4] Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophilia A
    Goudemand, J
    Rothschild, C
    Demiguel, V
    Vinciguerrat, C
    Lambert, T
    Chambost, H
    Borel-Derlon, A
    Claeyssens, S
    Laurian, Y
    Calvez, T
    [J]. BLOOD, 2006, 107 (01) : 46 - 51
  • [5] F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis
    Gouw, Samantha C.
    van den Berg, H. Marijke
    Oldenburg, Johannes
    Astermark, Jan
    de Groot, Philip G.
    Margaglione, Maurizio
    Thompson, Arthur R.
    van Heerde, Waander
    Boekhorst, Jorien
    Miller, Connie H.
    le Cessie, Saskia
    van der Bom, Johanna G.
    [J]. BLOOD, 2012, 119 (12) : 2922 - 2934
  • [6] Hemophilia A in Afghanistan, the first report
    Mousavi, Sayad Hamid
    Tabibian, Shadi
    Motlagh, Hoda
    Dorgalaleh, Akbar
    [J]. BLOOD COAGULATION & FIBRINOLYSIS, 2019, 30 (07) : 357 - 360
  • [7] Genetic diagnosis in hemophilia and von Willebrand disease
    Swystun, Laura L.
    James, Paula D.
    [J]. BLOOD REVIEWS, 2017, 31 (01) : 47 - 56
  • [8] VERBRUGGEN B, 1995, THROMB HAEMOSTASIS, V73, P247
  • [9] The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS
    Wacey, AI
    KemballCook, G
    Kazazian, HH
    Antonarakis, SE
    Schwaab, R
    Lindley, P
    Tuddenham, EGD
    [J]. NUCLEIC ACIDS RESEARCH, 1996, 24 (01) : 100 - 102
  • [10] Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique
    You, G. L.
    Ding, Q. L.
    Lu, Y. L.
    Dai, J.
    Xi, X. D.
    Wang, X. F.
    Wang, H. L.
    [J]. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 (06) : 1103 - 1110