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

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

Author information

1
Divisions of Laboratory Medicine or Internal Medicine, Uji-Tokushukai Medical Center, Uji-Tokushukai Medical Center, 145 Ishibashi, Makishima-cho, Uji, Kyoto, 611-0041, Japan. shinim95@mbox.kyoto-inet.or.jp.
2
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
3
Department of Hematology, Kawasaki Medical School, Kurashiki, Japan.
4
Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan.
5
Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
6
Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Japan.
7
Department of Hospital Pharmacy, Nagoya University, Nagoya, Japan.
8
Divisions of Laboratory Medicine or Internal Medicine, Uji-Tokushukai Medical Center, Uji-Tokushukai Medical Center, 145 Ishibashi, Makishima-cho, Uji, Kyoto, 611-0041, Japan.
9
Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan.
10
Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
11
Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
12
Health Intelligence Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
13
Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.

Abstract

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

PMID:
26971963
DOI:
10.1007/s12185-016-1970-x
[Indexed for MEDLINE]

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