5/11/2023 0 Comments Silent patient and the maidensThe details of the IRB/oversight body that provided approval or exemption for the research described are given below:Įthical approval for the study was obtained from PGIM Ethical Review Committee (Reference number: ERC/PGIM/2020/068) and the MSKU Ethical Review Committee (Reference number: 84), University of Colombo. I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. This study did not receive any funding Author Declarations It should be noted that a given genotype can greatly alter the clinical manifestation by the presence of additional mutations, making the relationship between genotype and phenotype highly variable. Identifying a mutated alpha globin gene requires newer molecular diagnostic tests such as next generation sequencing (NGS) and quantitative PCR (qPCR). Therefore, although HPLC does not seem to be sufficient to distinguish between normal individuals and the two variants, the decrease in HBA2 levels is an important finding. Although MCV, MCH, HGB, PCV and HBA2 levels differ between alpha thalassaemia minor carriers, alpha silent carriers and the normal group, conventional haemoglobin electrophoresis and haemogram alone have been found insufficient for the diagnosis of alpha thalassaemia. Conclusion In summary, despite the haematological and biochemical differences between α-thalassaemia minor and normal individuals, both variants of alpha thalassaemia present a diagnostic conundrum, as CBC and HPLC results for individuals are comparable to normal humans.
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