A Teenage Boy with Systemic Lupus Erythematosus Complicated with Acquired von Willebrand Syndrome: A Rare Case and Challenging in Making Diagnosis

@#In systemic lupus erythematosus (SLE), haematological abnormalities are frequent, although they are an uncommon cause of acquired von Willebrand syndrome (AVWS). AVWS is a rare condition that can cause a bleeding disorder. We presented a case of AVWS in the early diagnosis of SLE. One month before admission, the patient had a history of recurrent epistaxis. He presented to the hospital with symptomatic anaemia and was noted to have severe anaemia with iron deficiency. During hospitalisation, recurrent epistaxis recurred and was found to have prolonged activated partial thromboplastin time (aPTT), presence of lupus anticoagulant (LA), and lower von Willebrand factor (VWF), and factor 8 (VIII) levels. Simultaneously, he was diagnosed with SLE based on Systemic Lupus International Collaborating Clinics (SLICC) criteria. He underwent blood transfusions and was treated with immunosuppressive drugs such as steroids, mycophenolate mofetil, and an anti-fibrinolytic agent; he subsequently stopped bleeding and showed clinical improvement.

Optimal Mean Corpuscular Haemoglobin (MCH) Cut-Off Value for Differentiating Alpha Plus and Alpha Zero Thalassaemia in Thalassaemia Screening

@#Introduction: The aim of thalassaemia screening is to reduce thalassaemia syndromes with significant clinical implication. Therefore, detection of α0 thalassaemia with two genes deletion is clinically more important than α+ thalassaemia with one gene deletion. The aim of this study is to determine the mean corpuscular haemoglobin (MCH) cut-off point for α0 thalassaemia screening. Method: A total of 688 α0 and α+ thalassaemia cases confirmed by DNA analysis were analysed. Red cell indices (MCV, MCH, RBC, Hb) were retrieved from the laboratory information system. Receiver operating characteristic (ROC) curve is generated to determine the MCH cut-off point for α0 thalassaemia. The diagnostic performance of MCH cut-off value was evaluated with a validation group comprising 100 samples of alpha thalassaemia carriers. Results: ROC curve analysis with area under the curve (AUC) of 0.969 showed that MCH at cut-off of 23.5pg has high sensitivity and specificity in detecting α0 thalassaemia with 98% sensitivity and 85% specificity. Conclusion: MCH cut-off value of 23.5pg can be adopted as the cut-off point for α0 thalassaemia screening to detect clinically significant thalassaemia syndrome and reduce cost and burden of screening.

Assessment of Reticulocyte-haemoglobin Equivalent (Ret-He) as a Diagnostic Indicator for Iron Deficiency Anaemia

@#Introduction: Iron deficiency anaemia (IDA) is the most common cause of anaemia. The diagnosis of IDA, however, remains a challenge and is a problem worldwide. Serum iron study is commonly used for IDA diagnosis but there are some limitations. This study was conducted to evaluate reticulocyte-haemoglobin equivalent (Ret-He) as a screening tool for IDA diagnosis in adults. Method: This is a comparative case control study conducted in Hospital Tengku Ampuan Afzan, Kuantan consisting of adult patients with iron deficiency anaemia and a healthy control group. Haematological parameters (Hb, RBC count, MCV, MCH, RDW) inclusive of Ret-He and serum iron parameters (serum iron, transferrin saturation and serum ferritin) were measured. Correlation between Ret-He with other haematological and serum iron parameters were analysed. Results: There were 103 IDA adult patients with majority of them being female (85.4%) with median age of 36 years old. Malay ethnicity (79.6%) contributed to the larger proportion of adult IDA patients. The Ret-He value for patient and control groups were 16.50 ± 4.90 pg and 34.80 ± 1.97 pg, respectively. Ret-He was 89.32% sensitive and 100% specific with 100% positive predictive value (PPV) and 73.11% negative predictive value (NPV) when compared to transferrin saturation. There was significant correlation between Hb, MCH, MCV, RDW and serum iron, transferrin saturation and serum ferritin parameters with Ret-He. Conclusion: Ret-He together with a complete blood count, may serve as an alternative to the serum iron parameters for screening of IDA in adults.

Prevalence, Sociodemographic and Clinical Characteristics of G6PD Deficient Blood Donors in Terengganu and the Effects of Storage on Their Donated Blood

@#Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency causes red blood cell destruction due to oxidative stress. G6PD is essential for NADPH conversion; which is critical for glutathione reductase to prevent damage to cellular structures. In Malaysia, blood donors are not routinely screened for G6PD deficiency. We hypothesise that G6PD-deficient red blood cells are more likely to haemolyse during storage due to increased oxidative molecules. The objectives of this study were to determine the prevalence of G6PD deficiency among blood donors, describe their characteristics and to evaluate the effects of storage on G6PD-deficient donated blood. Methods: This study was conducted at selected mobile donation centres in Terengganu. Consented blood donors were screened for G6PD status using fluorescent spot tests (FST). G6PD enzyme activities were measured for donors who were G6PD deficient. Effects of storage on haemolysis from G6PD-deficient donors were compared with non G6PD-deficient group. Sixty ml of blood was collected from blood unit to transfer pouch for estimation of haemoglobin (Hb), plasma Hb, percentage of haemolysis and plasma potassium. Serial sampling with a 7-day interval was done from Day 1 to Day 35. Statistical analysis was considered significant if p ≤0.05. Results: A total of 440 blood donors were screened and 12 male donors were found to be G6PD deficient by FST. Enzymatic activities were measured in 11 donors as one donor sample failed to be sent to the centre due to logistic problem. Their enzymatic activities ranged from 1.66-2.93 U/g Hb whereby 6 have severe deficiency and the other 5 were categorised as partial deficiency. Donors were asymptomatic for haemolytic episode. Serial sampling showed there was no significant difference of haemolytic parameters in blood units of G6PD-deficient donors as compared to control (p>0.05). Conclusion: Prevalence of G6PD blood donors in Terengganu mobile centres was 2.7%. G6PD enzyme activities did not correlate with clinical symptoms. Haemolytic parameters were not affected in blood units which were G6PD-deficient.