Congenital bleeding disorders in Karachi, Pakistan.
OBJECTIVE
To determine the frequency of inherited bleeding disorders, its complications, and treatment modalities available for its treatment.


METHODS
Cross-sectional study.


METHODS
Patients with a history of bleeding tendency were tested for confirmation of the diagnosis. History and clinical findings were recorded. Laboratory analysis included prothrombin time (PT), activated partial thromboplastin time (APTT), bleeding time (BT), and fibrinogen assay. Patients with prolonged APTT were tested for factors VIII (FVIII) and IX (FIX). If FVIII was low, von Willebrand factor: antigen (vWF:Ag) and von Willebrand factor:ristocetin cofactor (vWF:RCo) were performed. When PT and APTT both were prolonged, FV, FX, and FII were tested. Platelet aggregation studies were done when there was isolated prolonged BT. Urea clot solubility test was done when all coagulation tests were normal. All patients with hemophilia A and B were evaluated for inhibitors.


RESULTS
Of the 376 patients, inherited bleeding disorder was diagnosed in 318 (85%) cases. Median age of patients was 16.4 years. Hemophilia A was the commonest inherited bleeding disorder that was observed in 140 (37.2%) followed by vWD 68 (18.0%), platelet function disorders 48 (12.8%), and hemophilia B in 33 (8.8%) cases. We also found rare congenital factor deficiencies in 13 (3.4%), low VWF in 11 (3.0%) participants and 5 (1.3%) in female hemophilia carriers. Hemarthrosis was the most frequent symptom in hemophilia A and B (79.7%) involving knee joint. Inhibitor was detected in 21 (15%) cases. Fresh frozen plasma/cryoprecipitate were the most common modality of treatment. In 58 patients, no abnormality was detected in coagulation profile.


CONCLUSIONS
Hemophilia A and vWD are the most common congenital bleeding disorders in this study. Hemarthrosis involving knee joint was the most common complication. Inhibitor was detected in a significant number of patients. Plasma is still the most common modality of treatment.
Department of Haemostasis and Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation. drmunirashoaib@yahoo.com
Munira
M
Borhany
Tahir
T
Shamsi
Arshi
A
Naz
Asif
A
Khan
Kousar
K
Parveen
Saqib
S
Ansari
Tasneem
T
Farzana
D000293:Adolescent; D000328:Adult; D025861:Blood Coagulation Disorders, Inherited / Q000188:drug therapy / Q000453:epidemiology* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010154:Pakistan / Q000453:epidemiology; D055815:Young Adult