THE CORRELATION BETWEEN CLINICAL AND HEMATOLOGICAL PARAMETERS IN HAEMOPHILIA IN A TERTIARY CARE HOSPITAL

Dr Seetharam Anandram, Dr Aaron Charles Lobo, Dr Cecil Reuben Ross, Dr Maneesh Sulya

Abstract


Introduction: Haemophilia is the most common inherited coagulation disorder with X-linked recessive inheritance. The
males are usually affected while females are often carriers of the disease. Haemophilia is caused by the deficiency of
coagulation factor VIII (haemophilia A) or factor IX (haemophilia B) resulting from mutations of the clotting factor gene.
This study looks at the clinical manifestations and laboratory features of patients with haemophilia.
Methods: This retrospective study was carried out at the Department of Medicine in the Hematology Unit, for a period of
1-year from July 2018 to June 2019. The patient's demographics, history, age, clinical features were studied in detail.
Complete haemogram, coagulation tests including PT, APTT, mixing studies and factor assays were documented.
Results: Out of 119 cases, 108 cases were of haemophilia A while 11 cases were of haemophilia B. All the cases were
males. The predominant presenting symptom was hemarthrosis followed by post-traumatic bleeding. The knee joint was
most commonly involved, followed by ankle, elbow and shoulder joint. 66.38% of cases had severe factor deficiency,
17.64% moderate and 15.96% mild deficiency.
Conclusion: A diagnosis of haemophilia was commonly suspected based on prolonged APTT in a bleeding patient or
picked up incidentally. The factor assay helped to confirm the diagnosis. The severity of the disease correlates with the
frequency and the severity of the bleed


Keywords


Hemophilia, Factor assay, Factor VIII, Factor IX

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