Bleeding disorders in the tribe: result of consanguineous in breeding

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.

Descriptive Epidemiology and Complications of Haemophilia in Assiut, Egypt

“…These results were in concordant with the results of Alzubaidy [10] as positive consanguinity were reported in (71.7%) and negative consanguinity in (28.3%) of hemophilic patients, also with Borhany et al [11] positive consanguinity marriage in Pakistan were (62.7%) and negative consanguinity were (37.3%) of hemophilic patients.…”

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.…”

Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)

“…1,2 The prevalence of the severe forms of FVII deficiency is, however, likely to be higher in those countries in which consanguineous marriages are frequent. 3 Affected patients display a wide range of clinical phenotypes, from an asymptomatic condition to serious and potentially fatal hemorrhagic episodes such as central nervous system or gastrointestinal bleeding episodes. 4 Symptomatic patients can be divided into two major categories: those with a mild to moderate bleeding tendency, and those with a very clear bleeding tendency that may be more severe than that in hemophilia A or B.…”