Журнал гематологии и тромбоэмболических заболеваний
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Rare Bleeding Disorders are not so Rare in Pakistan

Munira Borhany, Tahir Shamsi, Naveena Fatima, Hira Fatima, Arshi Naz and Humayun Patel

Background: Consanguinity remains common in several populations around the world, and varies from country to country. In Pakistan, close consanguineous unions continue to be extremely common as in South West Asia. Here, we describe the frequency of Rare Bleeding Disorders (RBDs), their types and clinical features among patients seeking advice for bleeding tendencies from a single centre in Pakistan. Patients and Methods: Pre-designed data sheets were filled by incorporating patient’s demographics, family history, present and past history of bleeding episodes with the associated signs and symptoms. In female cases, maternal and obstetrical history was taken. Blood samples were collected for Complete Blood Count (CBC) and coagulation assays. Results: Out of 600 patients diagnosed with inherited coagulation bleeding disorders, 64 subjects had RBDs (11%). Among them, 35(55%) were male and 29(45.31%) were female. Median age of patients was 9.8 years, (range, 12 days to 37 years). History of consanguinity was present in 85% of cases and significant family history of bleeding in 54% of patients. The most common deficiency was FXIII (n=18, 28%) and FVII deficiency (n=18, 28%) followed by fibrinogen deficiency (n=15, 23%), FV deficiency (n=5, 8%), FX deficiency (n=4, 6%), FXI deficiency (n=2, 3%) respectively. There were one case of each combined FV and VIII deficiency and vitamin K dependent factor deficiency (2%). Clinical bleeding episodes were classified into four categories according to severity: grade III and II bleeding were noted in 53%, and 47% patients, respectively. Menorrhagia (81%), gum bleeding (46.8%), easy bruising (42.1%), umbilical cord bleeding (35.9%), epistaxis (32.8%), hematomas (31.2%), hemarthrosis (26.6%) and delayed wound healing (25%) were the main clinical manifestations. Fresh frozen plasma/cryoprecipitate was used in the management of most patients. Conclusion: The study shows that autosomal recessive disorders are common in the setting of consanguineous marriages. Further studies of the association between phenotype and genotype in this subset of patients are needed.