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.
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页数:6
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