PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

Int J Hematol. 2016 Jul;104(1):125-9. doi: 10.1007/s12185-016-1970-x. Epub 2016 Mar 14.


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.

Keywords: Hemochromatosis; Hereditary high phosphatidylcholine hemolytic anemia; Macrocytic hemolytic anemia; PIEZO1 gene mutation; Stomatocytosis.

MeSH terms

  • Anemia, Hemolytic, Congenital / diagnosis*
  • Anemia, Hemolytic, Congenital / genetics*
  • Anemia, Hemolytic, Congenital Nonspherocytic / diagnosis
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
  • Asian People
  • Diabetes Mellitus / etiology*
  • Family Health
  • Female
  • Hemochromatosis / complications
  • Humans
  • Hydrops Fetalis / diagnosis
  • Ion Channels / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Phosphatidylcholines


  • Ion Channels
  • PIEZO1 protein, human
  • Phosphatidylcholines

Supplementary concepts

  • Xerocytosis, hereditary