Hematological Profile of Hb Adana Among High School Students in Northeast Peninsular Malaysia.

Background Hb Adana is a non-deletional alpha (α)-thalassaemia variant resulting from mutations in α1- or α2-globin codon 59 (αCD59), leading to the production of unstable α-globin. Clinical manifestations can vary from silent carrier status to dependence on blood transfusions, hepatosplenomegaly, skeletal deformities, and spinal cord compression. Despite the significance of Hb Adana inheritance, studying this variant poses challenges due to the scarcity of molecular tests and the potential for routine diagnoses to be overlooked. This study aims to investigate the prevalence of Hb Adana among local high school students and assess the hematological parameters and hemoglobin analysis of Hb Adana in Malaysia. Methodology This retrospective study analyzed 13,721 blood samples collected from high school students participating in Malaysia's National Thalassaemia Screening Program at Hospital Raja Perempuan Zainab II (HRPZ II). Deletional α-thalassaemia was detected using multiplex gap-polymerase chain reaction (PCR), while common non-deletional α-thalassaemia was identified using multiplex amplification refractory mutation system (ARMS) PCR. Data were extracted from the HRPZ II database for analysis. Results Among the participants, 2327 individuals were found to have either common deletional (n=1037, 44.6%) or non-deletional (n=1290, 55.4%) α-thalassaemia. Hb Constant Spring was the most prevalent non-deletional α-thalassaemia, accounting for 53.03% of cases. Thirty-one participants (1.33%) exhibited αCD59α/αα, and one (0.04%) had αCD59α/-α3.7. Among the 32 subjects with Hb Adana, 87.5% were Malay, and 12.5% were Orang Asli. Additionally, seven cases of HbE/Hb Adana co-inheritance were identified. Hemoglobin levels in heterozygous Hb Adana individuals ranged from mild anemia to normal, between 95 g/L and 153 g/L. Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were approximately 73 fL and 23 pg, respectively. Conclusion This study delineates the distribution of α-thalassaemia mutation patterns among high school students in Kelantan, Northeast Peninsular Malaysia. Our findings indicate that Hb Adana is rare in our region and co-inheritance with an α-gene deletion results in α+-thalassaemia and with HbE, α0-thalassaemia. All heterozygous Hb Adana individuals exhibited low MCVs and MCHs.

Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis.

Patients with heterozygous ß-thalassemia are generally asymptomatic. However, the intermediate phenotype is uncommon, and patients require further investigation to confirm the diagnosis. We describe a 32-year-old woman (gravida 3, para 2) with heterozygous ß-thalassemia who presented with symptomatic anemia and had a history of frequent blood transfusion in each pregnancy. Physical examination was unremarkable. Laboratory results at presentation showed hypochromic microcytic anemia with reticulocytosis. Molecular study revealed intermedia phenotypes resulting from coinheritance of heterozygous ß-globin chain mutation (IVS1-5) and a rare heterozygous α-globin triplication (αααanti-3.7). In this case report, we discuss the laboratory diagnostic approaches and the challenges faced in investigating this case.

Association of perioperative factor XIII activity levels and other haemostatic markers with the risk of postoperative intracranial haematoma in a selected cohort of neurosurgical patients.

BACKGROUND: Coagulation factor XIII and other haemostatic markers are known strengthen fibrin clot formation and, hence, may facilitate safer surgery. Currently however, factor XIII activity levels are not routinely screen. Therefore, the purpose of this study was to determine the association of perioperative factor XIII activity levels and other haemostatic markers with postoperative intracranial haematoma formation in neurosurgical patients. METHODS: Between January 2008 to Jun 2009, all neurosurgical patients who underwent intracranial surgery were screened for the study. Patients had blood samples taken preoperatively and within 24 h post-surgery for factor XIII and other haemostatic markers. The intracranial surgeries for the patients involved were performed according to their respective indications using standard neurosurgical techniques. Postoperatively, patients had a computed tomography (CT) brain scan, with the imaging results grouped into three classes: significant haematoma (group I), insignificant haematoma (group II) and no haematoma (group III). RESULTS: Of the total 84 enrolled patients, 5 (6%), 28 (33.3%) and 51 (60.7%) patients were assigned to group I, II and III respectively. Significant postoperative haematoma that required re-surgery was related to low postoperative platelet count (p < 0.01), and higher odds ratio of developing postoperative intracranial haematoma were shown with two combination factors: low postoperative factor XIII and platelet levels; and low postoperative factor XIII and antithrombin levels. CONCLUSION: Low platelet count can cause significant volume postoperative intracranial haematoma and in presence of multiple defects in haemostatic markers appears to be clinically useful to predict the formation of postoperative intracranial haematoma in neurosurgical patients.

Intracerebral haematomas after deep brain stimulation surgery in a patient with Tourette syndrome and low factor XIIIA activity.

A 24-year-old male patient with refractory Tourette syndrome was treated with deep brain stimulation (DBS) and developed subsequent bilateral subcortical haematomas. Additional blood tests revealed abnormalities of plasma factor XIIIA and tryptophan levels, which may be associated with Tourette syndrome. Neurosurgeons who perform DBS surgery on patients with Tourette syndrome must be aware of possible disastrous complications resulting from factor XIIIA disorders of blood haemostasis. Routine screening for this condition is not typically performed prior to surgery in these patients.