ArticleBMJ case reports2020
Atypical hereditary spherocytosis phenotype associated with pseudohypokalaemia and a new variant in the band 3 protein.
Article in BMJ case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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2 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.
- A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review.BMC medical genomics · 2022Pooled it
- Role of SLC4 and SLC26 solute carriers during oxidative stress.Acta physiologica (Oxford, England) · 2022Review
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Abstract
Red blood cell (RBC) membrane disorders are predominantly caused by mutations resulting in decreased RBC deformability and permeability. We present a family in which, the proband and his daughter presented with pseudohypokalaemia. Studies on the temperature dependence of pseudohypokalaemia suggested a maximum decrease in serum potassium when whole blood is stored at 37°C. Routine haematology suggested mild haemolysis with a hereditary spherocytosis phenotype. These two cases present a novel variant in temperature-dependent changes in potassium transport. A new variant was identified in the SLC4A1 gene which codes for band 3 protein (anion exchanger 1) in RBC membrane which may contribute to the phenotype. This is the first report of familial pseudohypokalaemia associated with changes in RBC membrane morphology. The clinical implications of pseudohypokalaemia are that it can lead to inappropriate investigation or treatment. However, many questions remain to be solved and other RBC membrane protein genes should be studied.
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