Bleeding disorders in the tribe: result of consanguineous in breeding.
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.
Borhany
Munira
M
Haemostasis & Thrombosis department of National Institute of Blood Disease & Bone Marrow Transplantation, Karachi, Pakistan. drmunirashoaib@yahoo.com
Pahore
Zaen
Z
Ul Qadr
Zeeshan
Z
Rehan
Muhammad
M
Naz
Arshi
A
Khan
Asif
A
Ansari
Saqib
S
Farzana
Tasneem
T
Nadeem
Muhammad
M
Raza
Syed Amir
SA
Shamsi
Tahir
T
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
D005169:Factor VIII; D005164:Factor IX; D005340:Fibrinogen
Thromb Haemost. 1994 Apr;71(4):520-5
8052974
Thromb Haemost. 1981 Dec 23;46(4):722-4
7330823
J Thromb Haemost. 2006 Oct;4(10):2103-14
16889557
Croat Med J. 2009 Apr;50(2):105-10
19399942
Pak Dev Rev. 1994 Winter;33(4 Pt 2):663-74
12346199
J Biosoc Sci. 1997 Oct;29(4):491-7
9881148
Haemophilia. 2008 Mar;14(2):171-232
18315614
Paediatr Perinat Epidemiol. 1998 Oct;12(4):370-82
9805711
Haemophilia. 2008 Jul;14 Suppl 3:202-10
18510543
Haemophilia. 2004 May;10(3):199-217
15086318
J Biosoc Sci. 1998 Apr;30(2):261-75
9746828
J Thromb Haemost. 2005 Jun;3(6):1321-2
15946229
Br J Haematol. 2000 Dec;111(4):1236-9
11167767
Soc Biol. 1988 Fall-Winter;35(3-4):324-30
3241995
Tunis Med. 1989 Mar;67(3):167-72
2756579
Thromb Res. 2008;121(6):835-41
17850851
Thromb Haemost. 1981 Dec 23;46(4):717-21
7330822
Am J Hematol. 2005 Jul;79(3):220-8
15981234
Ann Trop Paediatr. 1997 Jun;17(2):155-60
9230979
Blood. 2004 Sep 1;104(5):1243-52
15138162
J Biosoc Sci. 2009 Sep;41(5):575-81
19433002
J Med Genet. 1983 Feb;20(1):58-60
6842535
Haemophilia. 2006 Jul;12 Suppl 3:128-36
16684008
Blood Coagul Fibrinolysis. 2009 Dec;20(8):642-5
19710607
Ann Hum Biol. 2004 Mar-Apr;31(2):263-9
15204368
J Biosoc Sci. 1999 Oct;31(4):449-61
10581876
Obstet Gynecol. 2001 Apr;97(4):630-6
11275041
Haemophilia. 2002 May;8(3):308-21
12010428