Clinical and Haematological Parameters of Commonly Reported Non-deletional α-thalassaemia Mutations in Southeast Asia: A Review

@#Alpha (α)-thalassaemia is a common genetic disorder worldwide caused by the deletion and rarely non-deletional mutations of the α-globin gene. Nearly 70 types of non-deletional mutations have been reported worldwide, and this review focuses on the common ones affecting α-thalassaemia patients. The common mutations are initiation codon mutation, codon 30, haemoglobin (Hb) Constant Spring, Hb Quang Sze, Hb Adana and Hb Evora. The haematological parameters of non-deletional mutations usually show mild changes. However, a severe reduction in haemoglobin level, mean corpuscular haemoglobin (MCH), mean corpuscular volume (MCV), and mean corpuscular haemoglobin count (MCHC) has been observed among compound heterozygous HbH disease, involving both deletional and non-deletional mutations. Although non-deletional mutations are rarely reported, it requires the study of more cases to understand the clinical phenotypes that lead to severe clinical manifestations.

Serological and Molecular Detection of Toxoplasmosis among Blood Donors in Tertiary Hospital of Malaysia

@#Introduction: This preliminary cross-sectional study aimed to investigate the prevalence of toxoplasmosis among blood donors in Kelantan, Malaysia. Methods: A total of 56 blood donors were screened by an enzyme-linked immunosorbent assay (ELISA) for anti-T. gondii Immunoglobulin G (IgG) and Immunoglobulin M (IgM) antibodies. Positive T. gondii IgG and IgM were further tested for IgG avidity ELISA. All extracted deoxyribonucleic acids (DNAs) from whole blood samples were analyzed for the presence of the Toxoplasma B1 gene and the ITS1 region by polymerase chain reaction (PCR). The socio-demographic data of donors was assessed using a data collection form. Results: Out of 56 blood donors, 24 (42.86%) donors were IgG+/IgM-, and 2 (3.57%) donors were IgG+/IgM+ with one of them having a high avidity index indicating as past infection for more than 20 weeks and the other with a low avidity index indicating as recent infection within 20 weeks. None of the samples tested positive for the presence of the Toxoplasma B1 gene and the ITS1 region. A univariate analysis showed that only employment status was significantly associated with Toxoplasma seropositivity. Conclusion: The seroprevalence of toxoplasmosis among blood donors in Kelantan, Malaysia, was 46.43%. Nevertheless, direct detection by PCR showed that this parasite was absent in the blood. These results highlight that the blood donors in this study had previously been exposed to T. gondii infection. The parasite may still remain in certain tissues but does not freely circulate in the blood.

Acute Abdomen: Unmasked the Bleeding Site in Severe Haemophilia A

@#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.

Epidemiology, spectrum of clinical manifestations and diagnostic issue of acquired haemophilia: A case series

@#Introduction: Acquired haemophilia A (AHA) is a rare acquired bleeding disorder caused by polyclonal immunoglobulin G autoantibodies against clotting factor VIII (FVIII). The incidence was reported to be rare occurring in 0.2- 4 cases/million/year. Patients may present with different clinical manifestations to various specialties. Early recognition of the disease contributes to favourable clinical outcome. Case Series: Here, we reported five cases of this disorder with different clinical presentations from two tertiary hospitals in Kelantan state, Malaysia within a two year-period. Most of them were elderly, except for one who presented at the age of 36 years old. No direct or secondary cause was identified except for one patient who had developed from pregnancy-related at 3 weeks postpartum. These patients presented with spontaneous bleeding typically into skin, muscles, and mucous membranes but also at rare site in the epidural space. All patients denied previous history of bleeding or family history of bleeding disorder. FVIII activities were recorded between <1% to 19%, while the inhibitor titre levels were between 3.9 BU to 340 BU. The treatment approaches especially at presentation were complicated by unfamiliarity of managing this rare condition but all these patients received appropriate medical attention. Discussion: Prompt diagnosis and management in the right hand are critical. Awareness of this disorder by medical personnel at all levels in the community and in various specialties is important.

Familial antithrombin III deficiency in a Malay patient with massive thrombosis

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.