Sadiq Yunus Mulla1, Sachin Sitaram Pandit2, Sachin Kisan Shivnitwar3
BACKGROUND
Haemophilia’s are X-linked hereditary blood clotting disorders due to deficiency of
factor VIII (haemophilia A) or factor IX (haemophilia B) & also has identical clinical
manifestations, screening tests abnormalities and sex-linked genetic transmission.
Haemophilia’s result from defects in the factor VIII / IX gene that lead to
decreased amount of factor VIII / IX protein, the presence of a functionally
abnormal protein, or combination of both. Haemophilia A is a classic example of
an X-linked recessive trait. The severity of their bleeding depends on their factor
VIII activity level; and, rarely, a woman can have very low factor VIII activity, and
present with symptoms of moderate or even severe haemophilia. We wanted to
study the clinical profile of patients of haemophilia admitted in a tertiary care
hospital.
METHODS
This is a cross-sectional study enrolling 60 known cases of haemophilia A & B
admitted in wards & ICU / attending OPD of a tertiary care hospital. History was
obtained in detail & thorough clinical examination was carried out. Precipitating
factors for bleeding (spontaneous / minor trauma / major trauma / surgical
operation / dental procedure / others), family h / o bleeding were studied in detail.
RESULTS
Of the total 60 cases of haemophilia, majority (49) of cases were of haemophilia
A and 11 cases were of haemophilia B. In the study, majority (28.33 %) of cases
belonged to 12 - 20 years age group and the most common presentation was
haemarthrosis (61.67 %). 6 patients had factor VIII inhibitor antibodies and all of
them were of haemophilia A.
CONCLUSIONS
Haemarthrosis is the most common clinical presentation of haemophilia and most
common cause for haemarthrosis is spontaneous bleeding. Most common joint
involved in bleeding was knee joint (target joint). Presence of factor VIII inhibitor
antibodies specially in haemophilia A patients is not uncommon.
