Hereditary xerocytosis (HX) or dehydrated hereditary stomatocytosis (DHS) [OMIM 194380], in which PIEZO1 gene mutation has recently been identified, is difficult to diagnose. We report here the discovery of a PIEZO1 gene mutation in a Japanese family (father, daughter, and son) who were previously diagnosed with hereditary high phosphatidylcholine hemolytic anemia (HPCHA). All of the affected family members had non-spherocytic hemolytic anemia associated with severe hemochromatosis-related diabetes mellitus. Although the causative correlation between HPCHA and PIEZO1-gene mutated HX/DHS remains to be clarified, our findings raise an important question as to whether any of the HPCHA cases previously diagnosed in Japan may have in fact been the form of hemolytic anemia known as HX/DHS with PIEZO1 gene mutation.
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The authors thank all of the family members for their support in our study. The authors also would like to thank Ms. Yoshie Miura, Ms. Yuko Imanishi, and Ms. Hiroe Namizaki for their valuable assistance. The authors acknowledge the Division for Medical Research Engineering, Nagoya University Graduate School of Medicine for technical support of cell sorting and next-generation sequencing.
Compliance with ethical standards
Conflict of interest
The authors declare that there is no conflict of interests regarding the publication of this paper.
This work was supported by “Research on Measures for Intractable Diseases” Project from Ministry of Health Labour and Welfare, Grant-in-Aids from the Ministry of Health, Labor and Welfare of Japan (H23-TA012).
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