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Published on: May 21, 2017
Congenital bleeding disorders in Karachi, Pakistan
Munira Borhany1, Tahir Shamsi, Arshi Naz
1Department of Haemostasis and Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation. drmunirashoaib@yahoo.com
Summary
This study found Hemophilia A and von Willebrand disease (vWD) are the most common inherited bleeding disorders. Hemarthrosis, particularly in the knee, was the most frequent complication, with plasma remaining the primary treatment.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Background:
- Inherited bleeding disorders (IBDs) represent a significant group of congenital conditions.
- Understanding their prevalence, complications, and treatment is crucial for patient management.
Purpose of the Study:
- To determine the frequency of IBDs.
- To identify common complications associated with these disorders.
- To evaluate available treatment modalities.
Main Methods:
- A cross-sectional study was conducted on patients with a history of bleeding tendency.
- Diagnostic confirmation involved detailed history, clinical findings, and laboratory analyses including PT, APTT, BT, fibrinogen, factor assays (FVIII, FIX, FV, FX, FII), vWF:Ag, vWF:RCo, platelet aggregation, and urea clot solubility tests.
- Patients with hemophilia A and B were screened for inhibitors.
Main Results:
- Of 376 patients, 318 (85%) were diagnosed with an IBD.
- Hemophilia A (37.2%) and von Willebrand disease (vWD) (18.0%) were the most prevalent IBDs.
- Hemarthrosis, predominantly in the knee joint (79.7%), was the most common complication, and inhibitors were detected in 15% of patients. Fresh frozen plasma/cryoprecipitate were the most frequent treatments.
Conclusions:
- Hemophilia A and vWD are the most common congenital bleeding disorders in this cohort.
- Hemarthrosis of the knee is the leading complication.
- Plasma-based therapies remain the mainstay treatment for these conditions.
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