Abstract Number: PB0533
Meeting: ISTH 2022 Congress
Background: Inherited deficiencies of coagulation factors (IDF) are rare bleeding disorders with a variable bleeding tendency ranging from mild to severe. However, severity of bleeding does not necessarily correlate with the degree of factor (Fa) deficiency. High incidences of IDF occur in regions where consanguineous marriages are common .
Aims: We aimed to investigate the epidemiology of IDF among 416 patients (220 male and 196 female, median age 24±22) referred to the Royal Hospital between 2018 and 2020.
Methods: Data files of 416 patients were analysed for the following parameters: Coagulation screen, Mixing study, Extrinsic factors, Intrinsic factors, Factor XIII level and Bethesda assay.
Results: Overall, 92/416(22%) patients were diagnosed with IDF. All patients had prolonged PT and/or APTT, which were corrected by normal plasma. A single factor deficiency in the extrinsic pathway was detected in 36 patients (FaV=5, FaVII=30 and FaX=1) and in the intrinsic pathway in 49 patients (FaVIII=24, FaIX=2, FaXI=7 and FaXII=16). A combined deficiency of FaVIII & FaV, and FaIX & FaXI was detected in 3 and 1 patients respectively. Other deficiencies are afibrinogenemia (n=1), High-molecular-weight kininogen (n=1) and Prekallikrein (n=1). Out of 10 patients diagnosed with severe hemophilia A (HA), one developed antibodies to FaVIII. In addition, FaXIII was analysed in 35 patients, of which 4(11.4%) patients had reduced FaXIII level. On the other hand 263(63%) patients had factors deficiency due to acquired causes including acquired HA, Vitamin K deficiency and liver dysfunction. The remaining 61(15%) patients had their factors level within normal range.
Conclusion(s): Our current study revealed that deficiency of FaVII is the most common among Omanis, followed by HA and deficiency of FaXII. Individuals with FaXII deficiency are asymptomatic and tend to be detected incidentally during routine laboratory screening. As such the true incident of FaXII deficiency among Omanis could be higher than reported here.
To cite this abstract in AMA style:Al Ghaithi R, Al Hashami S, Al Amri N, AL Shiyadi S, Al Lamki S, Al Yahyai M, Al Riyami M, Al Musalhi M, Al Salmi I. Investigation of the epidemiology of inherited deficiency of coagulation factors in patients attending the Royal Hospital, Muscat, Oman [abstract]. https://abstracts.isth.org/abstract/investigation-of-the-epidemiology-of-inherited-deficiency-of-coagulation-factors-in-patients-attending-the-royal-hospital-muscat-oman/. Accessed September 29, 2023.
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