Rare bleeding disorders: spectrum of disease and clinical manifestations in the Pakistani population
Rafia Mahmood, Asad Mahmood, Maria Khan, Sadia Ali, Saleem Ahmed Khan, Syed Raza Jaffar
Department of Haematology, Armed Forces Institute of Pathology, Pakistan
Correspondence to: Rafia Mahmood, M.B.B.S, FCPS
Department of Haematology, Armed Forces Institute of Pathology, CMH Road, Rawalpindi 44000, Pakistan
E-mail: rafiamahmood@hotmail.com
Published online: September 4, 2020.
© The Korean Journal of Hematology. All rights reserved.

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Abstract
Background: Rare inherited coagulation factor deficiencies constitute an important group of bleeding disorders. A higher frequency of these disorders is seen in areas of high consanguinity. Our aim was to study the prevalence and spectrum of rare inherited bleeding disorders, characterize the severity of the deficiencies, identify different clinical manifestations, and evaluate different treatments provided.
Methods: This cross-sectional study was conducted in the Department of Haematology, Armed Forces Institute of Pathology Rawalpindi, between January 2014 and December 2018. A detailed history was taken, and an examination was performed. The signs and symptoms were noted, and the patients were diagnosed on the basis of a coagulation profile. The disease severity was assessed using factor assays.
Results: Among 2,516 patients with suspected coagulation disorders, 774 (30.8%) had an inherited bleeding disorder. Of the 774 patients, 165 (21.3%) had a rare bleeding disorder; 91 (55.2%) of them were males, and 74 (44.9%) were females, with a male-to-female ratio of 1.2:1. The median patient age was 9 years 3 months. The most common disorder was factor VII deficiency (46 patients, 27.9%). The most common clinical presentation was bruising in 102 (61.8%) and gum bleeding in 91 (55.2%) patients.
Conclusion: The most common rare bleeding disorder in our population is factor VII deficiency. The prevalence of these bleeding disorders is high in our population due to a high number of consanguineous marriages.
Keywords: Rare bleeding disorders, Factor deficiency, Factor assay


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