Haemophilia B Diagnostic Discrepancy: A Survey to Confirm the Diagnoses of Haemophilia B

Muhammad Tariq Masood Khan, Arshi Naz, Abid Sohail Taj, Tahir Sultan Shamsi, Muahmmad Tariq Hamayun Khan, Nazish Farooq, Jawad Ahmed



We aimed to determine the frequency of misdiagnosis among documented factor IX (FIX) deficient patients of Khyber Pakhtunkhwa (KP) province of Pakistan and to discern role of different diagnostic tests employed in this regard.


Patients were identified through registries at transfusion centers. A comprehensive questionnaire depicting demographic details, clinical history and physical examination was filled out for each enrolled patient. Their blood samples were posed to first and second line coagulation tests both manually and on two different automated coagulation analyzers.


From a total of 83 documented FIX deficient patients of Khyber Pakhtunkhwa province, 30 could be enrolled into the study. Diagnosis was found to have been correct in 18(60.0%) patients, whereas it was wrong in rest of the 12(40.0%) patients. All the cases diagnosed previously on the basis of factor assays were found to have been correct. The misdiagnosed cases were mostly hemophilia A whereas few had hypofibrinogenemia.


A large fraction of patients documented as FIX deficient on the basis of mixing studies are misdiagnosed. In clinical practice factor assays are more valid in comparison to mixing studies.

Key Words

Hemophilia B (MeSH), Factor IX Deficiency (Non-MeSH), Diagnostic Discrepancy (Non-MeSH), Mixing Studies (Non-MeSH)


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