Abstract
ObjectiveTo determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.DesignCross Sectional StudyIntroductionCountries in which consanguinity is a normal practice, these rare autosomal recessive disorders run in close families and tribes. Here we describe a family, living in village Ali Murad Chandio, District Badin, labeled as haemophilia.Patients & MethodsOur team visited the village & developed the pedigree of the whole extended family, up to seven generations. Performa was filled by incorporating patients, family history of bleeding, signs & symptoms, and bleeding from any site. From them 144 individuals were screened with CBC, bleeding time, platelet aggregation studies & RiCoF. While for PT, APTT, VWF assay and Factor VIII assay, samples were kept frozen at -70 degrees C until tested.ResultsThe family tree of the seven generations comprises of 533 individuals, 63 subjects died over a period of 20 years and 470 were alive. Out of all those 144 subjects were selected on the basis of the bleeding history. Among them 98(68.1%) were diagnosed to have a bleeding disorder; 44.9% patients were male and 55.1% patients were female. Median age of all the patients was 20.81, range (4 months- 80 yrs). The results of bleeding have shown that majority had gum bleeding, epistaxis and menorrhagia. Most common bleeding disorder was Von Willebrand disease and Platelet functional disorders.ConclusionConsanguineous marriages keep all the beneficial and adversely affecting recessive genes within the family; in homozygous states. These genes express themselves and result in life threatening diseases. Awareness, education & genetic counseling will be needed to prevent the spread of such common occurrence of these bleeding disorders in the community.
Highlights
Countries in which consanguinity is a normal practice, these rare autosomal recessive disorders run in close families and tribes
The family tree of the seven generations comprises of 533 individuals, 63 subjects died over a period of 20 years and 470 were alive
Out of all those 144 subjects were selected on the basis of the bleeding history
Summary
Countries in which consanguinity is a normal practice, these rare autosomal recessive disorders run in close families and tribes. We describe a family, living in village Ali Murad Chandio, District Badin, labeled as haemophilia. In Pakistan close consanguineous unions continue to be functional disorders and type III Von Willebrand Disease (VWD) become common. We describe a family, (Chandio family, living in village Ali Murad Chandio District Badin) reported by lady health workers, that most of the villagers of both sexes, were suffering from some bleeding disorder most probably haemophilia. This is the first local study of its type in this area, carried out at National Institute of Blood Disease and Bone Marrow Transplantation (NIBD & BMT), Karachi. The information presented in this study describes the risks associated with consanguinity and provides base line data on inheritance of rare bleeding disorder which may help us in formulating a campaign for the awareness of the public in general and the health sector in particular
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