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Overhydrated hereditary stomatocytosis(OHST)

MedGen UID:
348876
Concept ID:
C1861455
Disease or Syndrome
Synonyms: Potassium sodium disorder of erythrocyte; Stomatocytosis I
SNOMED CT: Overhydrated hereditary stomatocytosis (722125003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): RHAG (6p12.3)
 
Monarch Initiative: MONDO:0008493
OMIM®: 185000
Orphanet: ORPHA3203

Definition

Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. [from OMIM]

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Pulmonary embolism
MedGen UID:
11027
Concept ID:
C0034065
Pathologic Function
An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
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.
Prolonged neonatal jaundice
MedGen UID:
347108
Concept ID:
C1859236
Finding
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Increased mean corpuscular volume
MedGen UID:
81303
Concept ID:
C0302845
Finding
Larger than normal size of erythrocytes.
Stomatocytosis
MedGen UID:
760280
Concept ID:
C0677598
Laboratory or Test Result
The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
Increased red cell osmotic fragility
MedGen UID:
376594
Concept ID:
C1849478
Finding
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.
Increased intracellular sodium
MedGen UID:
871124
Concept ID:
C4025593
Finding
An abnormally increased sodium concentration in the cytosol.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOverhydrated hereditary stomatocytosis
Follow this link to review classifications for Overhydrated hereditary stomatocytosis in Orphanet.

Recent clinical studies

Etiology

Iolascon A, Andolfo I, Russo R
Br J Haematol 2019 Oct;187(1):13-24. Epub 2019 Jul 31 doi: 10.1111/bjh.16126. PMID: 31364155
Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L
Haematologica 2009 Aug;94(8):1049-59. doi: 10.3324/haematol.2008.002873. PMID: 19644137Free PMC Article
Bruce LJ, Guizouarn H, Burton NM, Gabillat N, Poole J, Flatt JF, Brady RL, Borgese F, Delaunay J, Stewart GW
Blood 2009 Feb 5;113(6):1350-7. Epub 2008 Oct 17 doi: 10.1182/blood-2008-07-171140. PMID: 18931342
Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233
Delaunay J, Stewart G, Iolascon A
Curr Opin Hematol 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. PMID: 10088641

Diagnosis

Chen Y, Lin Q, Ni W, Deng K, Li L
J Clin Lab Anal 2023 Dec;37(23-24):e24991. Epub 2023 Dec 13 doi: 10.1002/jcla.24991. PMID: 38087905Free PMC Article
Iolascon A, Andolfo I, Russo R
Br J Haematol 2019 Oct;187(1):13-24. Epub 2019 Jul 31 doi: 10.1111/bjh.16126. PMID: 31364155
Delaunay J
Semin Hematol 2004 Apr;41(2):165-72. doi: 10.1053/j.seminhematol.2004.02.005. PMID: 15071792
Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233
Delaunay J, Stewart G, Iolascon A
Curr Opin Hematol 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. PMID: 10088641

Therapy

Darghouth D, Koehl B, Heilier JF, Madalinski G, Bovee P, Bosman G, Delaunay J, Junot C, Roméo PH
Haematologica 2011 Dec;96(12):1861-5. Epub 2011 Aug 22 doi: 10.3324/haematol.2011.045179. PMID: 21859730Free PMC Article

Prognosis

Genetet S, Ripoche P, Picot J, Bigot S, Delaunay J, Armari-Alla C, Colin Y, Mouro-Chanteloup I
Am J Physiol Cell Physiol 2012 Jan 15;302(2):C419-28. Epub 2011 Oct 19 doi: 10.1152/ajpcell.00092.2011. PMID: 22012326

Clinical prediction guides

Genetet S, Ripoche P, Picot J, Bigot S, Delaunay J, Armari-Alla C, Colin Y, Mouro-Chanteloup I
Am J Physiol Cell Physiol 2012 Jan 15;302(2):C419-28. Epub 2011 Oct 19 doi: 10.1152/ajpcell.00092.2011. PMID: 22012326
Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L
Haematologica 2009 Aug;94(8):1049-59. doi: 10.3324/haematol.2008.002873. PMID: 19644137Free PMC Article
Wilkinson DK, Turner EJ, Parkin ET, Garner AE, Harrison PJ, Crawford M, Stewart GW, Hooper NM
Biochim Biophys Acta 2008 Jan;1778(1):125-32. Epub 2007 Sep 29 doi: 10.1016/j.bbamem.2007.09.016. PMID: 17961506
Fricke B, Parsons SF, Knöpfle G, von Düring M, Stewart GW
Br J Haematol 2005 Oct;131(2):265-77. doi: 10.1111/j.1365-2141.2005.05742.x. PMID: 16197460

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