A Clinico-Pathological Study of Hemophilia in Rural Set up of Karnataka
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2015, Vol 6, Issue 10
Abstract
Haemophilia is the most common inherited coagulation disorders, with X linked recessive inheritance, affecting the males while females are the carriers of the disease. Haemophilia A and Haemophilia B are the commonest form of Haemophilia encountered and they result from defect in Factor VIII and Factor IX gene respectively. A clinico hematological study with suspected coagulation disorder was conducted over a period of two years, from June 2008 to July 2010. Of the 76 patients visited OPD, based on clinical presentation and family history, 50 cases were categorized as Hemophilia A or B after laboratory investigations. Majority (41) of the cases were categorized as Hemophilia A & only 7 cases were Hemophilia B. The mean age group of the patients was 2.87 years with an age of onset ranged between 3rd day to 5.6 years. All the cases were males and only a very rare case of female Hemophilia patient was noted. Thirty five (52.23%) patients had positive family history of bleeding. In 12 families (18.75%) there had been consanguineous marriage. Spontaneous bleeding was the predominant presenting symptom followed by Hemarthrosis and prolonged post traumatic bleeding. The knee joint was most commonly involved. Coagulation screening tests showed that 60% patients had prolonged activated partial thromboplastin time (APTT) with an average of 88 seconds. Mixing and substitution studies were very useful in distinguishing between Hemophilia A & B. Factor assays in both Hemophilia A & B showed 66% of cases with severe factor deficiency, 26% moderate and 8% with mild deficiency. In the present study an effort is made to explore, elucidate and document the clinico haematological correlation of Hemophilia in this part of Karnataka.
Authors and Affiliations
Raja Parthiban, Amrit Kaur Kaler, M. Sangeeta, Suresh Hanagavadi, P. Sashikala, Shameem Shariff
Keywords
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- EP ID EP347273
- DOI 10.9734/BJMMR/2015/12810
- Views 65
- Downloads 0
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