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Year : 2023  |  Volume : 14  |  Issue : 2  |  Page : 101-107

Clinicopathological features of rare bleeding disorders in high consanguinity population; A retrospective analysis from two tertiary hospitals in Saudi Arabia

1 Department of Pathology, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia
2 Department of Pediatric Hematology/Oncology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
3 Central Military Laboratory and Blood Bank, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
4 Department of Adult Hematology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
5 King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Pathology and Laboratory Medicine, King Abdulaziz Medical City, Jeddah, Saudi Arabia

Correspondence Address:
Mansour S Aljabry
Department of Pathology, College of Medicine, King Saud University Medical College, King Saud University, P. O. Box: 2925, Riyadh 11461
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/joah.joah_103_22

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BACKGROUND: Rare bleeding disorder (RBDs) encompasses a deficiency of one or more of FXIII, FXI, FX, FVII, FV, FII, and FI clotting factors, leading to bleeding disorders with variable presentations and outcomes ranging from none or minimal to life-threatening events. RBDs are still underdiagnosed and underreported, especially in Saudi population with a high prevalence of consanguinity. OBJECTIVES: The study aimed to determine the frequency of RBDs, grading of their bleeding severity, and assessment of clinical manifestations and management of RBDs in tertiary Saudi Arabian hospitals. DESIGN AND SETTINGS: This retrospective study of RBDs describes the clinicopathological features of refereed cases to both Prince Sultan Military Medical City and King Khaled University Hospital in Riyadh, Saudi Arabia, from September 2018 to September 2021. Any patient who had already been diagnosed or suspected to have RBDs was enrolled in the study. PATIENTS AND METHODS: Patient's medical records were reviewed for demographic data, clinical presentations, bleeding and family history, consanguinity, treatment outcomes, and molecular testing. Samples were run in specialized coagulation laboratories. Patients with liver dysfunction or acquired factor deficiency were excluded. Patients were categorized into four groups according to the severity of bleeding episodes: asymptomatic, Grade I, Grade II, and Grade III. RESULTS: A total of 26 cases with RBDs were identified during the study period. Most of the included patients are males and pediatrics (<14 years) representing 15 (57.7%) and 14 (53.8%), respectively. FVII was the most common factor deficiency encountered in 9 (35%) patients, followed by FXIII in 5 (19%), FXI in 4 (15%), FX in 3 (11.5%), FV in 3 (11.5%), and combined factor deficiency in 2 (8%) patients. 17 (65.4%) RBD patients presented with bleeding manifestation either with Grade I (9%), Grade II (39%), or Grade III (15%), whereas 47% were asymptomatic. CONCLUSION: The study emphasizes on importance of establishing a national registry of RBDs in Saudi Arabia and the need for further genetic studies to clarify the genotype/phenotype relationships.

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