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Rare bleeding disorders: spectrum of disease and clinical manifestations in the Pakistani population

Blood Research 2020년 55권 3호 p.146 ~ 150
Mahmood Rafia, Mahmood Asad, Khan Maria, Ali Sadia, Khan Saleem Ahmed, Jaffar Syed Raza,
소속 상세정보
 ( Mahmood Rafia ) - Armed Forces Institute of Pathology Department of Haematology
 ( Mahmood Asad ) - Armed Forces Institute of Pathology Department of Haematology
 ( Khan Maria ) - Armed Forces Institute of Pathology Department of Haematology
 ( Ali Sadia ) - Armed Forces Institute of Pathology Department of Haematology
 ( Khan Saleem Ahmed ) - Armed Forces Institute of Pathology Department of Haematology
 ( Jaffar Syed Raza ) - Armed Forces Institute of Pathology Department of Haematology

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.

키워드

Rare bleeding disorders; Factor deficiency; Factor assay

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