title: Bleeding disorders in the tribe: result of consanguineous in breeding.
abstract: OBJECTIVE
  To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.
  
  
  METHODS
  Cross Sectional Study
  
  
  BACKGROUND
  Countries 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.
  
  
  METHODS
  Our 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.
  
  
  RESULTS
  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. 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.
  
  
  CONCLUSIONS
  Consanguineous 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.
authors.affiliation: Haemostasis & Thrombosis department of National Institute of Blood Disease & Bone Marrow Transplantation, Karachi, Pakistan. drmunirashoaib@yahoo.com
authors.forename: Munira
authors.initials: M
authors.lastname: Borhany
authors.forename: Zaen
authors.initials: Z
authors.lastname: Pahore
authors.forename: Zeeshan
authors.initials: Z
authors.lastname: Ul Qadr
authors.forename: Muhammad
authors.initials: M
authors.lastname: Rehan
authors.forename: Arshi
authors.initials: A
authors.lastname: Naz
authors.forename: Asif
authors.initials: A
authors.lastname: Khan
authors.forename: Saqib
authors.initials: S
authors.lastname: Ansari
authors.forename: Tasneem
authors.initials: T
authors.lastname: Farzana
authors.forename: Muhammad
authors.initials: M
authors.lastname: Nadeem
authors.forename: Syed Amir
authors.initials: SA
authors.lastname: Raza
authors.forename: Tahir
authors.initials: T
authors.lastname: Shamsi
mesh_terms: D001772:Blood Cell Count; D003241:Consanguinity; D005164:Factor IX / Q000032:analysis; D005169:Factor VIII / Q000032:analysis; D005260:Female; D005340:Fibrinogen / Q000032:analysis; D006474:Hemorrhagic Disorders / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010154:Pakistan / Q000453:epidemiology; D010314:Partial Thromboplastin Time; D010375:Pedigree; D010974:Platelet Aggregation; D011517:Prothrombin Time; D012424:Rural Population
chemical_list: D005169:Factor VIII; D005164:Factor IX; D005340:Fibrinogen
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