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\begin{document}

\title{Hereditary dehydrated stomatocytosis with new missense mutations in
PIEZO1 through the use of next-generation sequencing panel}



\author[1]{Sultan Aydin Koker}%
\author[2]{Tuba Karapınar}%
\author[3]{Paola Bianchi}%
\author[2]{Yesim Oymak}%
\author[4]{Elisa Fermo}%
\author[1]{Canan Vergin}%
\affil[1]{Dr Behçet Uz Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi}%
\affil[2]{Dr Behcet Uz Cocuk Hastaliklari ve Cerrahisi EAH}%
\affil[3]{Ospedale Maggiore Policlinico}%
\affil[4]{Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico}%


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  \date{May 29, 2024}


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\selectlanguage{english}
\begin{abstract}
Dehydrated hereditary stomatocytosis (DHS) is characterized by
alterations of ionic flux with increased cation permeability. Although
the clinical presentation of DHS is commonly variable, all of them
present hemolysis and anemia, which may range from mild to severe. Like
all hemolytic anemias, jaundice, pallor, fatigue, splenomegaly, and
gallstones are the key signs. The causative genes have been identified
on ABCG5, ABCG8, PIEZO1, SLC2A1, ABCB6, KCNN4, and RHAG. In this case
study, we report an 11-year-old male patient who had jaundice,
hepatosplenomegaly, and chronic mild congenital non-autoimmune hemolytic
anemia. In our patient, a novel homozygous missense mutation in the
PIEZO1 gene was detected using a gene-targeted Next-Generation
Sequencing panel: c.3364G\textgreater{}A (p.Glu1122Lys), confirming the
diagnosis of hereditary dehydrated stomatocytosis. The reason we want to
report this case is the detection of a new mutation due to hereditary
stomatocytosis, which is a rare disease. Also, due to the limited number
of research centers in developing countries and lack of financial
resources, it is late to be diagnosed with rare diseases.%
\end{abstract}%



\sloppy


\textbf{Hereditary dehydrated stomatocytosis with new missense mutations
in PIEZO1 through the use of next-generation sequencing panel}

Sultan AYDIN KOKER, MD\textsuperscript{1}\textbf{*} , Tuba Hilkay
KARAPINAR, MD \textsuperscript{1}, Paola BIANCHI\textsuperscript{2},
Ye\selectlanguage{polish}ş\selectlanguage{english}im OYMAK, MD \textsuperscript{1}, Elisa FERMO\textsuperscript{2},
Canan VERG\selectlanguage{polish}İ\selectlanguage{english}N, MD \textsuperscript{1}

\textsuperscript{1}Division of Pediatric Hematology and Oncology, Dr.
Beh\selectlanguage{ngerman}çet Uz Children's Hospital, Izmir, Turkey

\textsuperscript{2}Fondazione IRCCS Ca' Granda Ospedale Maggiore
Policlinico di Milano, UOC Ematologia,

UOS Fisiopatologia delle Anemie, Milan, Italy

\textbf{*} Correspondence to:

Sultan Aydin Koker, MD, Department of Pediatric Hematology and Oncology,
Dr. Behcet Uz Children's Hospital, Izmir, Turkey, Tel: +905545383483

E-mail:\emph{drsultanaydin@hotmail.com}

Text word count: 1357;

Abstract word count: 166;

Brief running title: Hereditary dehydrated stomatocytosis

Key words: Hereditary stomatocytosis, PIEZO1 gene, a novel mutation

Abbreviations\selectlanguage{english}
\begin{longtable}[]{@{}ll@{}}
\toprule
DHS & Dehydrated hereditary stomatocytosis\tabularnewline
NGS & Next-Generation Sequencing\tabularnewline
RBC & Red Blood Cell\tabularnewline
MCV & Mean Corpuscular Volume\tabularnewline
MCH & Mean Corpuscular Hemoglobin\tabularnewline
MCHC & Mean Corpuscular Hemoglobin Concentration\tabularnewline
\bottomrule
\end{longtable}

\textbf{Hosted file}

\verb`herediter stomatosis serdar tan\selectlanguage{polish}ı\selectlanguage{english}r 10.05.2021 pediatri blood cancer.docx`  available at \url{https://authorea.com/users/451245/articles/710172-hereditary-dehydrated-stomatocytosis-with-new-missense-mutations-in-piezo1-through-the-use-of-next-generation-sequencing-panel}

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