Abstract Number: PB0841
Meeting: ISTH 2020 Congress
Background: Haemophilia A is X-linked recessive bleeding disorder caused by either qualitative or quantitative defect of coagulation Factor VIII, a component of intrinsic pathway of clotting.
Aims: To detect mutation in intron 22 and 1 in haemophilia A patients by Inverse Shift Polymerase Chain Reaction (IS-PCR) technique and to correlate intron 22 and 1 inversion mutation with development of Factor VIII inhibitors.
Methods: This Cross sectional analytical study was conducted at Diagnostic and Research Laboratory Liaqat University Hospital (LUH) Hyderabad, Medical Research Centre Liaqat University of Medical and Health Sciences (LUMHS) Jamshoro and National Institute of Blood Diseases (NIBD) Karachi from January 2019 to June 2019. The sample size was 73, calculated by Open Epi software. The sampling technique was non-probability purposive. Diagnosed cases of haemophilia A, irrespective of their age and gender, either not transfused Factor VIII or at least one week after the transfusion of Factor VIII were included. In this study, IS-PCR method was used for inversion mutation and Bethesda Assay for inhibitor detection.
Results: The majority of participants were severe haemophiliacs, followed by moderate and mild haemophiliacs. The presence of Intron 22 inversion mutation was prevalent in severe category i.e. 45%. However, Intron 1 inversion mutation was not identified. Factor VIII inhibitors were present in 4 (66%) severe and 2 (33%) moderate haemophiliacs and in 5 (83%) of them intron 22 inversion was present. Joint deformity was present in majority of Haemophilia A patients 62 (85%), with knee joint being predominantly involved followed by elbow, ankle, shoulder, wrist and hip joint.
Conclusions: There is a significant correlation of severity of Haemophilia A with intron 22 inversion mutation and development of Factor VIII inhibitors. Furthermore, intron 22 inversion mutation exhibit significant relation with development of Factor VIII inhibitors.
To cite this abstract in AMA style:Khuwaja I, Ujjan ID, Naz A, Aamir K. Evaluation of Intron 22 and Intron 1 Inversions of Factor VIII Gene in Haemophilia A Patients [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/evaluation-of-intron-22-and-intron-1-inversions-of-factor-viii-gene-in-haemophilia-a-patients/. Accessed October 1, 2023.
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