U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dehydrated hereditary stomatocytosis 2(DHS2)

MedGen UID:
908701
•Concept ID:
C4225242
•
Disease or Syndrome
Synonyms: DESICCYTOSIS GARDOS; DHS2; XEROCYTOSIS GARDOS
 
Gene (location): KCNN4 (19q13.31)
 
Monarch Initiative: MONDO:0014737
OMIM®: 616689

Definition

In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015). For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380). [from OMIM]

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Hemolytic anemia
MedGen UID:
1916
•Concept ID:
C0002878
•
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
See: Feature record | Search on this feature
Reticulocytosis
MedGen UID:
60089
•Concept ID:
C0206160
•
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
See: Feature record | Search on this feature
Increased mean corpuscular volume
MedGen UID:
81303
•Concept ID:
C0302845
•
Finding
Larger than normal size of erythrocytes.
See: Feature record | Search on this feature
Increased mean corpuscular hemoglobin concentration
MedGen UID:
605654
•Concept ID:
C0427444
•
Finding
An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).
See: Feature record | Search on this feature
Acanthocytosis
MedGen UID:
195801
•Concept ID:
C0687751
•
Disease or Syndrome
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
See: Feature record | Search on this feature
Thrombocytosis
MedGen UID:
163397
•Concept ID:
C0836924
•
Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
See: Feature record | Search on this feature
Bite cells
MedGen UID:
699462
•Concept ID:
C1276265
•
Cell
Red blood cells that appear to have parts of them bitten away.
See: Search on this feature
Anisopoikilocytosis
MedGen UID:
436556
•Concept ID:
C2675920
•
Finding
A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Hyperbilirubinemia
MedGen UID:
86321
•Concept ID:
C0311468
•
Finding
An increased amount of bilirubin in the blood.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589
Red blood cell membrane defects.
Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233
Hereditary dehydrated and overhydrated stomatocytosis: recent advances.
Delaunay J, Stewart G, Iolascon A
Curr Opin Hematol 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. PMID: 10088641

Diagnosis

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589
New insights on hereditary erythrocyte membrane defects.
Andolfo I, Russo R, Gambale A, Iolascon A
Haematologica 2016 Nov;101(11):1284-1294. Epub 2016 Oct 18 doi: 10.3324/haematol.2016.142463. PMID: 27756835Free PMC Article
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
Delaunay J
Semin Hematol 2004 Apr;41(2):165-72. doi: 10.1053/j.seminhematol.2004.02.005. PMID: 15071792
Red blood cell membrane defects.
Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233
Hereditary dehydrated and overhydrated stomatocytosis: recent advances.
Delaunay J, Stewart G, Iolascon A
Curr Opin Hematol 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. PMID: 10088641

Therapy

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A
Am J Hematol 2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117. PMID: 26178367

Prognosis

Low HbA1c With Normal Hemoglobin in a Diabetes Patient Caused by PIEZO1 Gene Variant: A Case Report.
Song A, Lu L, Li Y, Lin M, Yuan X, Cheng X, Xia W, Wang O, Xing X
Front Endocrinol (Lausanne) 2020;11:356. Epub 2020 Jun 19 doi: 10.3389/fendo.2020.00356. PMID: 32636802Free PMC Article
The structure of a conserved piezo channel domain reveals a topologically distinct β sandwich fold.
Kamajaya A, Kaiser JT, Lee J, Reid M, Rees DC
Structure 2014 Oct 7;22(10):1520-7. Epub 2014 Sep 18 doi: 10.1016/j.str.2014.08.009. PMID: 25242456Free PMC Article

Clinical prediction guides

A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
Ghesh L, Besnard T, Joubert M, Picard V, Le Vaillant C, Beneteau C
Clin Genet 2022 Dec;102(6):543-547. Epub 2022 Sep 13 doi: 10.1111/cge.14217. PMID: 36031591
'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.
Fermo E, Bogdanova A, Petkova-Kirova P, Zaninoni A, Marcello AP, Makhro A, Hänggi P, Hertz L, Danielczok J, Vercellati C, Mirra N, Zanella A, Cortelezzi A, Barcellini W, Kaestner L, Bianchi P
Sci Rep 2017 May 11;7(1):1744. doi: 10.1038/s41598-017-01591-w. PMID: 28496185Free PMC Article
The structure of a conserved piezo channel domain reveals a topologically distinct β sandwich fold.
Kamajaya A, Kaiser JT, Lee J, Reid M, Rees DC
Structure 2014 Oct 7;22(10):1520-7. Epub 2014 Sep 18 doi: 10.1016/j.str.2014.08.009. PMID: 25242456Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...