Hereditary Xerocytosis due to Mutations in<i> PIEZO1</i> Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

<div>Results of LoRRca Osmoscan analysis in the affected patients compared to a normal control performed by Laser-Assisted Optical Rotation Cell Analyzer (LoRRca MaxSis, Mechatronics, Hoorn, The Netherlands). The osmotic gradient curves reflect RBC deformability as a continuous function of suspending medium osmolality. The following parameters were evaluated: EImax (maximal deformability, reflecting mean cellular surface area), Omin (osmolality at which deformability reaches its minimum, reflecting mean cellular surface-to-volume ratio), and Ohyper (the osmolality in the hypertonic region corresponding to 50% of the EImax, reflecting mean cellular hydration status).</div>

Case Reports in Hematology

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Figure 3: Hereditary Xerocytosis due to Mutations in<i> PIEZO1</i> Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families 

Figure 3 | Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families 