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

Abstract


Objective:

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.

Methods:

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.

Results:

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.

Conclusion:

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)


References


Stonebraker JS, Bolton-Maggs PH, Michael Soucie J, Walker I, Brooker M. A study of variations in the reported haemophilia B prevalence around the world. Haemophilia 2012;18(3):e91-4.

Eshghi P, Mahdavi-Mazdeh M, Karimi M, Aghighi M. Haemophilia in the developing countries: the Iranian experience. Arch Med Sci 2010;6(1):83-9.

Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, et al. Guidelines for the management of hemophilia. Haemophilia 2013;19(1):e1-47.

Hoffbrand AV, Catovsky D, Tuddenham EGD, Green AR: Postgraduate Haematology. 6th ed. West Sussex: Wiley; 2010.

Darby SC, Kan SW, Spooner RJ, Giangrande PL, Hill FG, Hay CR, et al. Mortality rates, life expectancy, and causes of death in people with hemophilia A or B in the United Kingdom who were not infected with HIV. Blood 2007;110(3):815-25.

Lee CA. Hemophilia complications. Hepatitis C infection and its management. Haemophilia 2000; 6(s1):133-7.

Gilbert MS. Musculoskeletal complications of haemophilia: the joint. Haemophilia 2000; 6(s1):34-7.

Philipp C. The Aging Patient with Hemophilia: Complications, Comorbidities, and Management Issues. ASH Education Program Book 2010;2010(1):191-6.

Plebani M. Errors in clinical laboratories or errors in laboratory medicine? Clin Chem Lab Med 2006; 44(6):750-9.

Makris M, Peyvandi F. Assaying FVIII activity: one method is not enough, and never was. Haemophilia 2014;20(3):301-3.

Cid AR, Calabuig M, Cortina V, Casana P, Haya S, Moret A, et al. One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype. Haemophilia 2008;14(5):1049-54.

Bowyer AE, Van Veen JJ, Goodeve AC, Kitchen S, Makris M. Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. Haematologica 2013; 98:1980-7. doi: 10.3324/haematol.2013.088088. Epub 2013 Jun 28.

Khanum F, Collins P, Bowen DJ. Diagnosis of haemophilia in Pakistan: current picture. J Coll Physicians Surg Pak 2013;23(6):450-1.

Lee CA, Berntorp EE, Hoots WK: Textbook of Hemophilia. 3rd ed. West Sussex: Wiley; 2014.

Kitchen S, McCraw A, Echenagucia M: Diagnosis of Hemophilia and Other Bleeding Disorders. 2nd ed. Canada: World Federation of Hemophilia; 2010. 45-8 p.

Plebani M. The detection and prevention of errors in laboratory medicine. Ann Clin Biochem 2010; 47(2):101-10.

Lippi G, Chance JJ, Church S, Dazzi P, Fontana R, Giavarina D, et al. Preanalytical quality improvement: from dream to reality. Clin Chem Lab Med 2011; 49(7):1113-26.

Plebani M. Exploring the iceberg of errors in laboratory medicine. Clin Chim Acta 2009; 404(1):16-23.

Franchini M, Mannucci PM. The history of hemophilia. Semin Thromb Hemost 2014 Jul;40(5):571-6. doi: 10.1055/s-0034-1381232. Epub 2014 Jun 9.

Oldenburg J, Dolan G, Lemm G. Haemophilia care then, now and in the future. Haemophilia 2009;15(s1):2-7.

Mannucci PM. Back to the future: a recent history of haemophilia treatment. Haemophilia 2008;14(s3):10-8

Kulkarni R, Soucie JM, Lusher J, Presley R, Shapiro A, Gill J, et al. Sites of initial bleeding episodes, mode of delivery and age of diagnosis in babies with haemophilia diagnosed before the age of 2 years: a report from The Centers for Disease Control and Prevention’s (CDC) Universal Data Collection (UDC) project. Haemophilia 2009;15(6):1281-90.

Doolin PJ: Medical Assisting Made Incredibly Easy: Lab Competencies. Philadelphia: Lippincott Williams & Wilkins; 2007.

Esteridge BH, Reynolds AP, Walters NJ: Basic Medical Laboratory Techniques. 4th ed. Boston: Cengage Learning; 2000.

Jones SL: Clinical Laboratory Pearls. 1st ed. Philadelphia: Lippincott Williams & Wilkins; 2001.




KHYBER MEDICAL UNIVERSITY (KMU) PESHAWAR

KMU INSTITUTE OF MEDICAL SCIENCES (KIMS), KOHAT, KHYBER PAKHTUNKHWA, PAKISTAN- 2012

 

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