Spectrum of inherited bleeding disorders in southern Iran, before and after the establishment of comprehensive coagulation laboratory

Abstract

The objective of the present study was to determine the pattern of inherited bleeding disorders in southern Iran and evaluate the effect of a comprehensive coagulation laboratory and related efforts. A total of 545 patients with inherited bleeding disorders were evaluated during 1992-2007 by a cross-sectional study. Data were collected by a data-gathering form. Statistical analysis was done using Statistical Package for the Social Sciences version 15. A P value less than 0.05 was considered statistically significant. Overall 411 patients had common bleeding disorders including 326 hemophilia A, 46 hemophilia B, and 39 von Willebrand disease. Seventy-nine patients had rare coagulation disorders including deficiency of factor VII (n = 26), factor X (n = 18), factor XIII (n = 9), factor I (n = 9), factor XI (n = 7), factor V (n = 4), combined factor VIII and factor V (n = 4), and combined factor X and factor VII (n = 2). Fifty-five patients had platelet disorders including 23 with Glanzmann's thrombasthenia, 15 with Bernard-Soulier syndrome, and 17 with other platelet disorders, most of which (45) were diagnosed after the establishment of the comprehensive coagulation laboratory. Annual mean number of new diagnosed patients with common and rare bleeding disorders increased from 29 +/- 4 to 38 +/- 17. The ratio of the patients diagnosed with rare bleeding disorders to common bleeding disorders significantly increased after the establishment of the comprehensive diagnosis laboratory (P < 0.001).It seems that implementation of collaborative projects by the Shiraz Hemophilia Society and the establishment of the comprehensive coagulation laboratory and treatment centers have been successful in increasing diagnosis of the inherited bleeding disorders and consequently better management of the patients.

Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran

“…In other words this may be a sporadic finding. These findings are contrary to previous studies [11][12][13][14][15][16][17][18][19][20]. Probably further studies are needed to clarify this issue.…”

“…Parents who are not the biologic parents of patients or adopt the patients were also excluded from the list. Since factor XII-deficient patients (n ¼ 2) did not experience bleeding symptoms and were prone to thrombosis [20], they were excluded from our study. Patients with VWD types I and II deficiency were also excluded as they are autosomal dominant.…”

Bleeding disorders in the tribe: result of consanguineous in breeding

“…GT is a rare disorder caused by a defect in the glycoprotein IIb/IIIa complex receptors. Its incidence has increased in geographic regions where consanguinity is common, like India and Iran [30,32]. BSS, like GT, is characterized by an autosomal recessive pattern of inheritance.…”

Rare bleeding disorders: diagnosis and treatment

“…1,2 Relative frequency varies among populations, being higher where consanguineous or endogamous marriages are common, with increased frequency of specific mutant genes. [3][4][5][6][7][8] The evaluation of the worldwide RBD distribution relies on 2 large surveys that collected epidemiologic data; one is led by the World Federation of Haemophilia (WFH, http://www.wfh.org/) and the other is within the European Network of the Rare Bleeding Disorders (EN-RBD; http://www.rbdd.eu/). The WFH began RBD data collection in ;2004, whereas the EN-RBD project began in 2007.…”