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Orphanet J Rare Dis. 2010 Sep 7;5:23. doi: 10.1186/1750-1172-5-23.

Bleeding disorders in the tribe: result of consanguineous in breeding.

Author information

  • 1Haemostasis & Thrombosis department of National Institute of Blood Disease & Bone Marrow Transplantation, Karachi, Pakistan. drmunirashoaib@yahoo.com

Abstract

OBJECTIVE:

To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.

DESIGN:

Cross Sectional Study

INTRODUCTION:

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.

PATIENTS & 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.

CONCLUSION:

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.

PMID:
20822539
PMCID:
PMC2940786
DOI:
10.1186/1750-1172-5-23
[PubMed - indexed for MEDLINE]
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