Background: β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population has its own common mutations, accounting for the majority of cases, with a small number of mutations for the rarer alleles. Due to the heterogeneity of β-thalassaemia and the multi-ethnicity of Malaysians, molecular diagnostics may be expensive and time consuming. Methods: A simple polymerase chain reaction (PCR) approach involving a multiplex amplification refractory mutation system (MARMS) and one amplification refractory mutation system (ARMS), consisting of 20 β-globin gene mutations, were designed and employed to investigate β-thalassaemia patients and carriers. Results: Out of 169 carriers tested with the MARMS, Cd 41/42 (–TTCT), Cd 26 (A–G) HbE, IVS 1–1 (G–T), and IVS 1–5 (G–C) were the most common mutations, accounting for 78.1%. Among the Malays, Cd 26 (A–G) HbE, Cd 41/42 (–TTCT), IVS 1–1 (G–T), and IVS 1–5 (G–C) were the most common mutations, accounting for 81.4%, whereas Cd 41/42 (–TTCT) and IVS 2–654 (C–T) were most common among the Chinese (79.1%). Conclusion: We propose the use of this cheap, easy to interpret, and simple system for the molecular diagnostics of β-thalassaemia among Malaysians at the Institute for Medical Research (IMR)

Background: Petrol is known to be hazardous to human health and is associated with various health effects, such as haematotoxicity and oxidative stress. Although Malaysia has adopted the European fuel quality standards in recent years in order to reduce petroleum pollutants and to improve air quality, gasoline with research octane number 95 (RON95), believed to contain benzene and other toxic substances, is still widely used all over the country. This study assessed the effect of RON95 gasoline on haemtological parameters of rats after 11 weeks of exposure. Methods: A total of 16 male Sprague-Dawley rats were randomly divided into two groups: control (exposed to ambient air daily) and gasoline exposed (exposed to petrol fumes at 11.13 ± 1.1cm3/h for 6h daily, 6 days/week) groups. Body weight was monitored daily. At the end of 11 weeks, the rats were sacrificed, bone marrow was extracted for cytological examination, and blood samples were collected for a full blood picture examination, full blood counts and oxidative markers. Results: The results show that gasoline inhalation was associated with a significant (P < 0.05) reduction in the rate of weight gain and a reduction in mean corpuscular haemoglobin concentration and red cell distribution width. It was also observed that the inhalation of gasoline was associated with changes in the nuclei of megakaryocytes, hence causing an increase in the percentage of abnormal megakaryocytes with detached nuclei, hypo-lobulation and/or disintegration. However, the inhalation of gasoline did not cause significant changes in oxidative markers in the erythrocytes. Conclusion: This study shows that 11 weeks of inhaling RON95 petrol vapours caused adverse effects on weight gain, blood cell indices and bone marrow megakaryocytes, but did not cause significant changes in oxidative markers in erythrocytes. The definitive effects of these changes on health require further confirmation.

Patients with low antithrombin III (AT III) has increased risk for arteriovenous thromboembolic (TE) disease. We report a 28-year-old Malay lady who presented with spontaneous right calf pain and swelling of one week duration. She was on oral contraceptive pills and had a history of travelling for a long distance prior to the presentation. Her brother who was diagnosed with AT III deficiency had arterial thrombosis at a young age. She was diagnosed as having right popliteal vein thrombosis by ultrasound and treated with subcutaneous fondaparinux. While on treatment, she developed massive bilateral pulmonary embolism (PE). Thrombophilia study showed reduced AT III activity (38μl/dl) and normal results for protein C, protein S, activated protein C resistance and lupus anticoagulant assays. This patient has heterozygous AT III deficiency added with significant acquired factors responsible for the TE events. Those with AT III deficiency may have resistance to heparin therapy and require higher doses of heparin.

Haemolytic disease of the foetus and newborn (HDFN) is caused by maternal red blood cells (RBC) alloimmunisation resulted from incompatibility of maternal and foetal RBCs. However, only a few HDFN attributed to anti-M were reported, varying from asymptomatic to severe anaemia with hydrops foetalis and even intrauterine death. A case of severe HDFN due to anti-M alloantibody from an alloimmunized grandmultiparous Malay woman with recurrent pregnancy loss is reported here. The newborn was delivered with severe and prolonged anaemia which required frequent RBC transfusions, intensive phototherapy and intravenous immunoglobulin administration. Although anti-M is rarely known to cause severe HDFN, a careful serological work-up and close assessment of foetal well-being is important, similar to the management of RhD HDFN. Alloimmunisation with anti-M type can lead to severe HDFN and even foetal loss.

Haemophilia A is an inherited bleeding disorder, commonly involve soft tissues and joints. Gastrointestinal tract bleeding, are not uncommon but seldom highlighted. A 23-year-old male with underlying severe haemophilia A was presented with a generalised abdominal pain for 2 days, abdominal distension, diarrhoea and vomiting. He did not have any trauma to the abdomen. Abdominal examination revealed generalized tenderness with sign of guarding on palpation. Laboratory investigations revealed isolated, prolonged activated partial thromboplastin time (APTT) with normal total white blood cell count and haemoglobin level. In view of acute abdomen, which was not resolved by conservative treatment, an emergency laparotomy was done with FVIII concentrate and recombinant factor VII (rFVII) coverage. Intraoperative findings noted patchy gangrenous spots of about 30 cm in length in the small bowel. Histopathology examination revealed an evidence of haemorrhage within the submucosal and intramuscularis layer from the resected specimen. This case highlighted the possibility of gastrointestinal bleeding without prior trauma, which can be presented as acute abdomen in severe haemophilia patient.

We reported a case of recurrent subcutaneous swelling on the left foot of a diabetic patient. Two different organisms, Cladosporium spp. and Phaeoacremonium krajdenii were isolated, both of which are associated with phaeohyphomycosis and eumycetoma. The cure was achieved through surgical excision of the lesion and a course of antifungal therapy. The diagnosis was uncertain since clinical manifestations and laboratory results were insufficient to distinguish the two diseases.