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 Table of Contents  
ORIGINAL ARTICLE
Year : 2012  |  Volume : 3  |  Issue : 1  |  Page : 36-38

Rare inherited clotting factor deficiencies: A single-center experience


1 Department of Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
2 Department of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Date of Web Publication30-Jun-2014

Correspondence Address:
H Al-Zahrani
Department of Hematology/Oncology and Pathology Lab Medicine King Faisal Specialist Hospital and Research Center P.O. Box 3354, Riyadh 11211, MBC 64
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


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  Abstract 

Rare inherited clotting factor deficiencies are challenging, presenting significant diagnostic and therapeutic difficulties. The prevalence of these disorders is strongly influenced by a population's racial mix. The clinical presentations of these disorders display great variability in type and severity. This study was a retrospective review of a single center. We reviewed the medical charts of all patients diagnosed with rare clotting factor deficiencies presented at our institute over the span of 25 years (1985-2009). We identified 38 patients (19 males and 19 females). Of these patients, 1 had afibrinogenemia deficiency, and 2, 3, 6, 1, 9, 6, and 9 patients were diagnosed with FII FV, FVII, FX, FXI, FXII, and FXIII deficiency, respectively and 1 patient with combined FV and FVIII deficiency . All patients were diagnosed using standard clotting factor functional assays. Seventeen patients had positive family history for bleeding. Currently, 27 patients remain alive, 2 are dead, and 9 have been lost to follow-up. As expected, all patients with FXII deficiency had no bleeding symptoms; one had deep vein thrombosis and another presented with transient ischemic attack. Interestingly, we found that half the patients with FXII deficiency had skeletal deformities. The diagnosis of rare clotting factor deficiency is not common in our institute. There was delay in diagnosis, which could have been due to lack of awareness and availability of diagnostic tests in small hospitals. The limited exposure to blood products resulted in fewer viral infections. Disability was a common problem in this set of patients.

Keywords: Clotting, Arab, Rare Running title: Rare clotting factors


How to cite this article:
Madkhali I, Owaidah T, Riash M A, Naser R, Al-Zahrani H. Rare inherited clotting factor deficiencies: A single-center experience. J Appl Hematol 2012;3:36-8

How to cite this URL:
Madkhali I, Owaidah T, Riash M A, Naser R, Al-Zahrani H. Rare inherited clotting factor deficiencies: A single-center experience. J Appl Hematol [serial online] 2012 [cited 2020 Aug 15];3:36-8. Available from: http://www.jahjournal.org/text.asp?2012/3/1/36/135680

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