ABSTRACT
@#Recent improvement in the treatment and management of α-thalassaemia has enabled patients to live longer and have better quality of life, thus revealing other complications related to the disorder mainly due to the effects of chronic ineffective erythropoiesis and iron overload. We review the renal dysfunction seen in α-thalassaemia as it has been reported (published and personal communication) that the complications presented are more severe than those found in β-thalassaemia patients of similar severity clinically. This review aims to shed light on emerging complications that are currently faced by α-thalassaemia patients as they progress further in life
ABSTRACT
@#Introduction: Iron deficiency anaemia (IDA) is the most common cause of anaemia worldwide. Determination of body iron status is necessary to diagnose IDA. This can be measured using a biochemistry assessment of the serum/ plasma. Plasma/serum iron quantitation is also important in diagnosing iron overload disorders. However, iron studies are limited due to high cost and lack of access to biochemical analysers. Therefore, a cost- and technical-effective method is needed to measure human plasma iron concentration. Plasma iron is mainly transferrin-bound and an acidic plasmic condition is necessary to release the iron. This study investigated various candidate acid salts to achieve the acidic condition needed for plasma iron release. Method: Ten powdered or crystallised acid salts were studied for their water solubility as well as their pH reduction capability in revised simulated body fluid (r-SBF) and commercially available human plasma without any change in colour or form. Results: Six acid salts studied were discontinued from further investigation because they were insoluble in water. Another two candidates were unsuitable as they precipitated in r-SBF and human plasma. Maleic acid formed a jelly-like texture after a certain amount of time in human plasma. Only citric acid met all the criteria of a suitable acid salt to be investigated further as part of the reagent for a spontaneous plasma iron measurement. Conclusion: Citric acid, which is a colourless and odourless acid salt, was selected to lower the human plasma pH to an acidic condition for transferrin-bound iron release.
ABSTRACT
Detection and quantification of Hb subtypes of human blood is integral to presumptive identification of thalassaemias. It has been used in neonatal screening of thalassaemia and Hb variants. The use of discarded red blood cells following processing of the cord blood for stem cells provides readily available diagnostic material for thalassaemia screening. In this study, we determined the range of Hb subtypes in 195 consecutive cord blood samples collected for cord blood banking. The `cord blood samples’ analysed were those of the remaining red blood cells after the cord blood was processed for stem cell storage. Quantification of Hb subtypes by high performance liquid chromatography (HPLC) was done on BioRad Variant II Hb testing system. Only 73 (36.5%) of the samples could be analyzed neat without dilution. With a 1:300 dilution with wash solution the acceptable area as recommended by the manufacturer for reading of a C-gram within the 1 to 3 million ranges were achieved in all. Eighteen (9%) 12 showed classical Hb Barts (γ4) prerun peaks were confirmed by Sebia Hydrasys automated Hb gel electrophoresis and quantified by Sebia Capillarys 2 capillary electrophoresis. Only 1 (0.5%) was presumptively identified with HbH disease. Due to the limited number of samples no beta-thalassaemia major, Hb E beta-thalassaemia and Hb Barts hydrops fetalis were found. The HPLC assay was possible at a cost US$ 5 per sample and a turnover time of 10 samples per hour without technical difficulties. This study reports an effective and valuable protocol for thalassaemia screening in red blood cells which would otherwise be discarded during cord blood processing. Cord blood with severe and intermediate forms of thalassaemia can be preselected and not stored.