Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias

Conclusion Trying to summarize and come up with a common channel increased activity/dysfunction or just an effect (decrease or increase in conductance) accompanying RBCs ion disbalance disorders, we stumble upon a great variability in results. Such a variability is of course reflecting the many triggers of the disbalance and for sure not lessened by the fact that not only between different mutations but also among members of a family with the same mutation there are distinct differences starting from the severity of the disease and extending down to the cellular level. Such a summary is even harder and certainly not helped by the great variability in healthy subjects reflected in control membrane conductance measurements as seen in our study. And last but not least answers are yet heavier without so far clearly knowing how an increased Na+ and a decreased K+ can lead to overhydration as in OHSt or to dehydration as in HX. Nevertheless based on our study we conclude that changes in conductance are incurred by certain α-spectrin [c.2755G> T (p.Glu919) and c.678G> A p.(Glu227fs) whenever an αLELY allele is present], band 3 protein [c.2348T> A p.(Ile783Asn)] and Piezo1 (c.7483_7488dupCTGGAG p.2495_2496dupLeuGlu) mutations as a difference is observed with both the general and the transportation control. Identification of the channel/channels that underlie the changed conductances demands future studies. Ethics Statement Patients’ data were handled ano...
Source: Frontiers in Physiology - Category: Physiology Source Type: research

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Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
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