PMID- 32703298
OWN - NLM
STAT- MEDLINE
DCOM- 20210708
LR  - 20210708
IS  - 1824-7288 (Electronic)
IS  - 1720-8424 (Linking)
VI  - 46
IP  - 1
DP  - 2020 Jul 23
TI  - A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a 
      case report and a brief review of literature.
PG  - 102
LID - 10.1186/s13052-020-00864-x [doi]
LID - 102
AB  - BACKGROUND: Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis 
      is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, 
      presence of stomatocytes and dehydration of red blood cells (RBCs). The 
      dehydration is caused by a defect in cellular cation content. The most frequent 
      expression of the pathology is hemolytic well-compensated anemia with high 
      reticulocyte count, a tendency to macrocytosis, increased mean corpuscular 
      hemoglobin concentration (MCHC) and mild jaundice. We here describe a new 
      mutation of PIEZO1 gene, the most frequent mutated gene in DHS, in a family 
      affected by hereditary hemolytic anemia. CASE PRESENTATION: We describe the case 
      of a 12-years-old girl with well-compensated chronic hemolysis, increased MCHC 
      and a father who had the same hematological characteristics. After excluding 
      secondary causes of chronic hemolysis and enzymatic defects of the RBCs, 
      microscopic observation of the peripheral blood smear, tests of RBC lysis, 
      ektacytometry, SDS-PAGE and in last instance genetic analysis has been performed. 
      This complex diagnostic workup identified a new variant in the PIEZO1 gene, never 
      described in literature, causative of DHS. This pathogenetic variant was also 
      detected in the father. CONCLUSIONS: This case report highlights the importance 
      of a correct and exhaustive diagnostic-workup in patients with clinical 
      suspicious for hemolytic anemia in order to make a differential diagnosis. This 
      is relevant for the management of these patients because splenectomy is 
      contraindicated in DHS due to high thrombotic risk.
FAU - Zama, Daniele
AU  - Zama D
AUID- ORCID: 0000-0002-9895-5942
AD  - Department of Pediatrics, "Lalla Seragnoli," Hematology-Oncology Unit, 
      Sant'Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 11, 40137, 
      Bologna, Italy. daniele.zama@gmail.com.
FAU - Giulietti, Giulia
AU  - Giulietti G
AD  - Department of Pediatrics, "Lalla Seragnoli," Hematology-Oncology Unit, 
      Sant'Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 11, 40137, 
      Bologna, Italy.
FAU - Muratore, Edoardo
AU  - Muratore E
AD  - Department of Pediatrics, "Lalla Seragnoli," Hematology-Oncology Unit, 
      Sant'Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 11, 40137, 
      Bologna, Italy.
FAU - Andolfo, Immacolata
AU  - Andolfo I
AD  - Department of Molecular Medicine and Medical Biotechnologies, "Federico II" 
      University of Naples, Naples, Italy.
AD  - CEINGE, Biotecnologie Avanzate, Naples, Italy.
FAU - Russo, Roberta
AU  - Russo R
AD  - Department of Molecular Medicine and Medical Biotechnologies, "Federico II" 
      University of Naples, Naples, Italy.
AD  - CEINGE, Biotecnologie Avanzate, Naples, Italy.
FAU - Iolascon, Achille
AU  - Iolascon A
AD  - Department of Molecular Medicine and Medical Biotechnologies, "Federico II" 
      University of Naples, Naples, Italy.
AD  - CEINGE, Biotecnologie Avanzate, Naples, Italy.
FAU - Pession, Andrea
AU  - Pession A
AD  - Department of Pediatrics, "Lalla Seragnoli," Hematology-Oncology Unit, 
      Sant'Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 11, 40137, 
      Bologna, Italy.
LA  - eng
GR  - Bando Star Linea 1 - JUNIOR PRINCIPAL INVESTIGATOR GRANTS - COINOR/Universita 
      degli Studi di Napoli Federico II (IT)/
GR  - 3978026/EHA Junior Research Grant/
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20200723
PL  - England
TA  - Ital J Pediatr
JT  - Italian journal of pediatrics
JID - 101510759
RN  - 0 (Ion Channels)
RN  - 0 (PIEZO1 protein, human)
RN  - Xerocytosis, hereditary
SB  - IM
MH  - Adult
MH  - Anemia, Hemolytic, Congenital/*diagnosis/*genetics
MH  - Child
MH  - Female
MH  - Humans
MH  - Hydrops Fetalis/*diagnosis/*genetics
MH  - Ion Channels/*genetics
MH  - Male
MH  - Mutation, Missense/*genetics
MH  - Pedigree
PMC - PMC7379360
OTO - NOTNLM
OT  - Dehydrated hereditary stomatocytosis
OT  - Genetic disease
OT  - Hemolytic anemia
OT  - Mean corpuscular hemoglobin concentration (MCHC)
OT  - Next generation sequencing (NGS)
COIS- The authors declare that they have no competing interests.
EDAT- 2020/07/25 06:00
MHDA- 2021/07/09 06:00
PMCR- 2020/07/23
CRDT- 2020/07/25 06:00
PHST- 2019/11/20 00:00 [received]
PHST- 2020/07/10 00:00 [accepted]
PHST- 2020/07/25 06:00 [entrez]
PHST- 2020/07/25 06:00 [pubmed]
PHST- 2021/07/09 06:00 [medline]
PHST- 2020/07/23 00:00 [pmc-release]
AID - 10.1186/s13052-020-00864-x [pii]
AID - 864 [pii]
AID - 10.1186/s13052-020-00864-x [doi]
PST - epublish
SO  - Ital J Pediatr. 2020 Jul 23;46(1):102. doi: 10.1186/s13052-020-00864-x.