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Dehydrated hereditary stomatocytosis 2(DHS2)

MedGen UID:: 908701
•Concept ID:: C4225242
•: Disease or Syndrome

Synonyms:	DESICCYTOSIS GARDOS; DHS2; XEROCYTOSIS GARDOS

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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Hemolytic anemia

MedGen UID:: 1916
•Concept ID:: C0002878
•: Disease or Syndrome

A type of anemia caused by premature destruction of red blood cells (hemolysis).

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Reticulocytosis

MedGen UID:: 60089
•Concept ID:: C0206160
•: Finding

An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.

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Increased mean corpuscular volume

MedGen UID:: 81303
•Concept ID:: C0302845
•: Finding

Larger than normal size of erythrocytes.

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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).

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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.

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Thrombocytosis

MedGen UID:: 163397
•Concept ID:: C0836924
•: Disease or Syndrome

Increased numbers of platelets in the peripheral blood.

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Bite cells

MedGen UID:: 699462
•Concept ID:: C1276265
•: Cell

Red blood cells that appear to have parts of them bitten away.

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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.

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Splenomegaly

MedGen UID:: 52469
•Concept ID:: C0038002
•: Finding

Abnormal increased size of the spleen.

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Hyperbilirubinemia

MedGen UID:: 86321
•Concept ID:: C0311468
•: Finding

An increased amount of bilirubin in the blood.

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Abnormality of blood and blood-forming tissues
Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
Abnormality of the digestive system
- Hepatomegaly
- Jaundice
Abnormality of the immune system
- Splenomegaly

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVXerocytosis
- CROGVDehydrated hereditary stomatocytosis 2
- CROGVDehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Hereditary stomatocytosis
- Xerocytosis
  - Dehydrated hereditary stomatocytosis 2

Recent clinical studies

Etiology

Inherited hemolytic anemia: a possessive beginner's guide.

Mohandas N
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):377-381. doi: 10.1182/asheducation-2018.1.377. PMID: 30504335 Free PMC Article

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

Bae C, Gnanasambandam R, Nicolai C, Sachs F, Gottlieb PA
Proc Natl Acad Sci U S A 2013 Mar 19;110(12):E1162-8. Epub 2013 Mar 4 doi: 10.1073/pnas.1219777110. PMID: 23487776 Free PMC Article

Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred.

Houston BL, Zelinski T, Israels SJ, Coghlan G, Chodirker BN, Gallagher PG, Houston DS, Zarychanski R
Blood Cells Mol Dis 2011 Dec 15;47(4):226-31. Epub 2011 Sep 25 doi: 10.1016/j.bcmd.2011.08.001. PMID: 21944700

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

See all (5)

Diagnosis

Inherited hemolytic anemia: a possessive beginner's guide.

Mohandas N
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):377-381. doi: 10.1182/asheducation-2018.1.377. PMID: 30504335 Free PMC Article

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: 27756835 Free PMC Article

Hereditary xerocytosis revisited.

Archer NM, Shmukler BE, Andolfo I, Vandorpe DH, Gnanasambandam R, Higgins JM, Rivera A, Fleming MD, Sachs F, Gottlieb PA, Iolascon A, Brugnara C, Alper SL, Nathan DG
Am J Hematol 2014 Dec;89(12):1142-6. Epub 2014 Jul 21 doi: 10.1002/ajh.23799. PMID: 25044010 Free PMC Article

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

See all (19)

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

See all (1)

Prognosis

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

Glogowska E, Lezon-Geyda K, Maksimova Y, Schulz VP, Gallagher PG
Blood 2015 Sep 10;126(11):1281-4. Epub 2015 Jul 21 doi: 10.1182/blood-2015-07-657957. PMID: 26198474 Free 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: 25242456 Free PMC Article

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Zarychanski R, Schulz VP, Houston BL, Maksimova Y, Houston DS, Smith B, Rinehart J, Gallagher PG
Blood 2012 Aug 30;120(9):1908-15. Epub 2012 Apr 23 doi: 10.1182/blood-2012-04-422253. PMID: 22529292 Free PMC Article

Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred.

See all (4)

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

PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cells.

Caulier A, Jankovsky N, Demont Y, Ouled-Haddou H, Demagny J, Guitton C, Merlusca L, Lebon D, Vong P, Aubry A, Lahary A, Rose C, Gréaume S, Cardon E, Platon J, Ouadid-Ahidouch H, Rochette J, Marolleau JP, Picard V, Garçon L
Haematologica 2020 Mar;105(3):610-622. Epub 2019 Aug 14 doi: 10.3324/haematol.2019.218503. PMID: 31413092 Free PMC Article

'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: 28496185 Free PMC Article

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

Bae C, Gnanasambandam R, Nicolai C, Sachs F, Gottlieb PA
Proc Natl Acad Sci U S A 2013 Mar 19;110(12):E1162-8. Epub 2013 Mar 4 doi: 10.1073/pnas.1219777110. PMID: 23487776 Free PMC Article

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

See all (8)

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Dehydrated hereditary stomatocytosis 2(DHS2)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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