Rare Cases of Haemoglobin Variant Presented with Isolated Erythrocytosis

@#Haemoglobinopathies presenting with erythrocytosis is relatively rare. The clinicians might mistakenly diagnose such patients with other causes of erythrocytosis such as myeloproliferative neoplasm, etc instead of haemoglobinopathies. Here, we described two cases of haemoglobin variant, namely Haemoglobin Johnstown (Hb Johnstown) and Haemoglobin Bethesda (Hb Besthesda) that were detected following various futile investigations for persistent erythrocytosis. For both cases, the two main screening methods used were capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). Approximately 30% of the high affinity haemoglobin (Hb) are not detected by electrophoresis method, however, in some cases, a variant Hb peak can be seen in chromatography method. Thus, a high index of suspicion of such diagnosis is utmost important as to not to miss the definitive diagnostic test by DNA analysis.

Effects of Consuming Yellowstripe Scad versus Salmon on Lipid Profile, Fasting Glucose, Body Weight Status and Blood Pressure among Healthy Overweight Malaysian Adults

Introduction: This is a preliminary result of an on-going randomised cross-over trial to compare the effects of consuming yellowstripe scad (YSS) and salmon, both rich in omega-3 fatty acids, on lipid profile, fasting glucose, body weight status, and blood pressure among healthy overweight adults. Methods: Fifty healthy overweight Malaysians aged 21-55 years were recruited voluntarily through advertisements. During the first period of intervention, subjects were randomised equally to receive eight weeks of either steamed whole YSS fish (YSS group) or salmon fillet (salmon group), three days per week, obtaining approximately 7000 mg EPA+DHA per week. The diets were switched after an eight-week washout period. Lipid profile, fasting glucose, body mass index, and blood pressure were evaluated before and after each intervention period. Results: The mean ages of YSS group (n=25) and salmon (n=25) group were 30.6?±9.1 and 27.9?±7.1 years respectively. Both groups had no statistically significant differences on socio-demographic characteristics (p>0.05). After the first intervention period, there was a significant increase in total cholesterol within the YSS group (p0.05). Both YSS and salmon groups had significantly higher HDL-cholesterol levels after 8 weeks compared to baseline (p0.05). However, there was a significant effect of time on diastolic blood pressure (p<0.05). Conclusion: These preliminary findings indicate that YSS and salmon may have similar beneficial effects on HDL-cholesterol level among healthy overweight adults. The second intervention period is on-going to confirm these finding

MTHFR C677T Polymorphism, Homocysteine and B-Vitamins Status in a Sample of Chinese and Malay Subjects in Universiti Putra Malaysia

Introduction: Methylenetetrahydrofolate reductase (MTHFR) C677T is involved in folate and homocysteine metabolism. Disruption in the activity of this enzyme will alter their levels in the body. Methodology: This study assessed MTHFR C677T polymorphism and its relationship with serum homocysteine and Bvitamins levels in a sample of Chinese and Malays subjects in UPM, Serdang. One hundred subjects were randomly selected from among the university population. Folate, vitamin B12, B6, and homocysteine levels were determined using MBA, ECLIA, and HPLC, respectively. PCR coupled with HinfI digestion was used for detection of MTHFR C677T polymorphism. Results: The frequency of T allele was higher in the Chinese subjects (0.40) compared to the Malay (0.14). Folate, vitamin B12 and B6 levels were highest in the wild genotype in both ethnic groups. Subjects with heterozygous and homozygous genotype showed the highest homocysteine levels. The serum folate and homocysteine were mainly affected by homozygous genotype. Conclusion: MTHFR C677T polymorphism plays an important role in influencing the folate and homocysteine metabolism.