Haemophilia B: clinical manifestations and complications

Haemophilia B is X-linked recessive inherited disorder of factor IX deficiency. It is classified as severe, moderate and mild depending upon plasma levels of factor IX. The development of inhibitors is seen during treatment of haemophilia B against F-IX. This study was aimed to determine the frequency of different complications in haemophilia B patients. Total 45 patients of Haemophilia B already enrolled in the Haemophilia society of Pakistan Lahore chapter were included in this study. Clinical history and physical examinations were recorded on a pre designed proforma. Laboratory testing for establishment of diagnosis of haemophilia B and inhibitors of FIX was done. Out of 45 patients, 10 [22.2%] had severe disease while 28 [62.2%] had moderate and 07 [15.6%] had mild disease. Twenty nine [64.4%] of patients with severe and moderate disease were diagnosed below 5 years of age while none with mild disease was diagnosed under 5 years of age. Arthropathy was the most frequently developing complication in patients 10 [100%] of severe Hemophilia B. Post circumcision bleeding was found to be the most common first episode of bleeding in patients of haemophilia B 29 [64.4%]. Inhibitor against F-IX developed in only one patient of severe disease 1 [10%]. Arthropathy is the commonest complication and circumcision is the first bleeding site in most of the haemophiliacs

Platelets dysfunction in patients of end stage renal disease

Patients with end - stage renal disease [ESRD] develop increased bleeding tendency, which is characterized by defective interaction of platelets with damaged sub endothelium due to impaired platelet functions. This study was earned out to demonstrate the aggregation defects in uraemic patients by using different platelet agonists. A total of 57 subjects were included in the study. These were divided into two groups; 37 patients of ESRD on maintenance haemodialysis and 20 healthy adults as control. Complete blood count [CBC], urea and creatinine were carried out on all the samples. Aggregation studies were performed using chronology 490 - 2D Platelet Aggregometer. Adenosine diphosphate [ADP], collagen, ristocetin and arachidonic acid were used as agonists to perform aggregation studies and correlation of these parameters with Haemoglobin [Hb], Haematocrit [Hct], urea and creatinine were determined. All the subjects included in this study were evaluated for platelet aggregation in vitro. Percentages of maximal aggregation of platelets with ADP, collagen, ristocetin and arachidonic acid were significantly low in uraemic patients as compared to the control group. Aggregation with ristocetin was particularly reduced in uraemic patients [Mean 57.54 +/- 23.85%] in comparison with controls [Mean 84 +/- 6.01%]. Inverse correlation of urea was found with ADP response [p value 0.028] and creatinine with arachidonic acid [p value 0.036] which was statistically significant. No correlation was found between haemoglobin, haematocrit and percentage of maximal aggregation after stimulation with collagen, ADP, ristocetin and arachidonic acid. Aggregation responses were reduced with almost all the agonists, especially ristocetin as compared to control samples. This shows that defective platelet - vessel wall interactions play an important role in uraemic bleeding tendency