Frequency of Intron 22 Inversion in Severe Hemophilia A Patients

被引:0
作者
Ashfaq, Javeria [1 ]
Ahmed, Rehana [2 ]
Tariq, Faryal [1 ]
ul Abedin, Qurat [2 ]
Abid, Madiha [2 ]
Borhany, Munira [2 ]
机构
[1] Natl Inst Blood Dis & Bone Marrow Transplantat, Clin Hematol, Karachi, Pakistan
[2] Natl Inst Blood Dis & Bone Marrow Transplantat, Hematol, Karachi, Pakistan
关键词
factor viii; inhibitor; severity; intron; 22; inversion; haemophilia a; INHIBITOR DEVELOPMENT; GENOTYPE; MUTATION; GENE; PCR;
D O I
10.7759/cureus.28247
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective: The aim of our study was to find the frequency of Intron 22 inversion (Inv22) in severe hemophilia A (HA) patients and to evaluate the association between Inv22 and FVIII inhibitor formation.Method: Data analysis was carried out on IBM SPSS Statistics Version 23.00 (IBM Corp, Armonk, NY). Descriptive statistics were applied to measure the frequencies, percentages, and mean +/- SD of the clinical and general history of HA patients, including age, family history, inhibitor status, intron22 inversion, and FVIII levels. Chi-square was applied to evaluate the association between Inv22 and F8 inhibitor formation.Results: A total of 62 HA patients were enrolled in the study with mean +/- SD age of (14.39 +/- 13.2) years. A family history of HA was observed in 36 (58.1%) patients. Out of 62 patients, 28(45.2%) were reported as Inv22 positive while inhibitor status was observed as positive in three (4.83%) patients. However, an insignificant association was observed between the inhibitor and Inv22 positive patients with a p-value=0.443.Conclusion: In our study, Inv22 was found to be the major cause of severe HA in our patients, i.e., 45.1%. However, no significant relation was computed between Inv22 and inhibitor formation.
引用
收藏
页数:6
相关论文
共 24 条
  • [1] Identification of the Intron 22 and Intron 1 Inversions of the Factor VIII Gene in Iraqi Kurdish Patients With Hemophilia A
    Abdulqader, Aveen M. Raouf
    Mohammed, Ali Ibrahim
    Rachid, Shwan
    Ghoraishizadeh, Peyman
    Mahmood, Sarwar Noori
    [J]. CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS, 2020, 26
  • [2] Factor VIII Intron 22 Inversion in Severe Hemophilia A Patients in Palestine
    Abu Arra, Caesar Mahmoud
    Samarah, Fekri
    Abu Hasan, Nael Sudqi
    [J]. SCIENTIFICA, 2020, 2020
  • [3] Spectrum of factor VIII mutations in Arab patients with severe haemophilia A
    Abu-Amero, K. K.
    Hellani, A.
    Al-Mahed, M.
    Al-Sheikh, I.
    [J]. HAEMOPHILIA, 2008, 14 (03) : 484 - 488
  • [4] Astermark J, 2005, HAEMATOLOGICA, V90, P924
  • [5] Borhany M, 2012, JCPSP-J COLL PHYSICI, V22, P289, DOI 05.2012/JCPSP.289293
  • [6] Bowen DJ, 2003, THROMB HAEMOSTASIS, V89, P201
  • [7] Prevalence of FVIII inhibitors in severe haemophilia A patients: Effect of treatment and genetic factors in an Indian population
    David, Sachin
    Nair, Sukesh C.
    Singh, G. Surender
    Abu Alex, Ansu
    Ganesan, Saravanan
    Palani, Hamenth Kumar
    Balasundaram, Nithya
    Lakshmi, Kavitha M.
    Joshi, Aditi
    Kannan, S.
    Korula, Anu
    Aboobacker, Fouzia Nambiatheyil
    Abraham, Aby
    George, Biju
    Apte, Shashikant Janardan
    Srivastava, Alok
    Mathews, Vikram
    [J]. HAEMOPHILIA, 2019, 25 (01) : 67 - 74
  • [8] First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations
    Elmahmoudi, Hejer
    Khodjet-el-khil, Houssein
    Wigren, Edvard
    Jlizi, Asma
    Zahra, Kaouther
    Pellechia, Dorothe
    Vinciguerra, Christine
    Meddeb, Balkis
    Elggaaied, Amel Ben Ammar
    Gouider, Emna
    [J]. DIAGNOSTIC PATHOLOGY, 2012, 7
  • [9] Development of inhibitors in patients with haemophilia from India
    Ghosh, K
    Shetty, S
    Kulkarni, B
    Nair, S
    Pawar, A
    Khare, A
    Baindur, S
    Mohanty, D
    [J]. HAEMOPHILIA, 2001, 7 (03) : 273 - 278
  • [10] 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