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. 2018 Mar;93(3):E67-E69.
doi: 10.1002/ajh.24996. Epub 2017 Dec 23.

Hereditary xerocytosis: Diagnostic considerations

Mary Risinger  1 , Edyta Glogowska  2   3   4 , Satheesh Chonat  5 , Kejian Zhang  6 , Neha Dagaonkar  6 , Clinton H Joiner  5 , Charles T Quinn  7 , Theodosia A Kalfa  7 , Patrick G Gallagher  2   3   4
Affiliations

Hereditary xerocytosis: Diagnostic considerations

Mary Risinger et al. Am J Hematol. 2018 Mar.
No abstract available

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Conflict of interest statement

CONFLICT OF INTEREST

The authors declare no competing financial interests.

Figures

FIGURE 1
FIGURE 1
Evaluation of RBC phenotype in the proband (A–D) and of functional significance of the PIEZO1 L2023V mutation (E,F). A, Wright-stained peripheral blood smear. Large arrows indicate stomatocytes; small arrow points to a spherocyte. B, Pedigree chart of proband’s family with hemoglobin values and RBC indices for affected family members. P = proband. Reference ranges: Hgb 13–16 g/dL male, 12–16 female; MCV 78–94 fL; MCHC 31–36 g/dL; ARC 39–100 × 103/µL. C, Ektacytometry osmoscan showing that the proband’s father had an essentially normal profile while the proband and the proband’smother had an HX profile with decreased Omin and Ohyp. D, Intracellular cation values determined by flame emission spectroscopy indicating decreased K+ in the proband and hismother. E, Sequence surrounding L2023 in several species illustrates strong conservation in this region. F, Delayed channel inactivation of the L2023V mutant. Top graph: Whole cell patch clamp at −80 mV. Representative traces of mechanically activated currents recorded from HEK293 cells expressing wild type PIEZO1 (PIEZO1-WT; black trace) or mutant PIEZO1 (PIEZO1-L2023V; red trace). Traces were normalized to the peak current. Maximum current responses for each construct were overlaid for inactivation kinetics purposes. Bottom graph: Average of inactivation time constant (tau, ms) from mono-exponential fits for PIEZO1-WT (black) and mutant PIEZO1-L2023V (red). The means were compared using two-tailed Student’s t-test (P < .0001). Bars represent mean ± SEM; n = number of cells tested [Color figure can be viewed at wileyonlinelibrary.com]
See this image and copyright information in PMC

References

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