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Stomatocytosis I(OHST)

MedGen UID:
348876
Concept ID:
C1861455
Disease or Syndrome
Synonyms: OHST; Overhydrated hereditary stomatocytosis; Potassium sodium disorder of erythrocyte
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Overhydrated hereditary stomatocytosis (722125003)
 
Gene (location): RHAG (6p12.3)
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

Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
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 enlargement of the spleen.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice.
Increased intracellular sodium
MedGen UID:
871124
Concept ID:
C4025593
Finding
An abnormally increased sodium concentration in the cytosol.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.

Recent clinical studies

Etiology

Reithmeier RA, Casey JR, Kalli AC, Sansom MS, Alguel Y, Iwata S
Biochim Biophys Acta 2016 Jul;1858(7 Pt A):1507-32. Epub 2016 Apr 6 doi: 10.1016/j.bbamem.2016.03.030. PMID: 27058983
King MJ, Zanella A
Int J Lab Hematol 2013 Jun;35(3):237-43. Epub 2013 Mar 11 doi: 10.1111/ijlh.12070. PMID: 23480868
Kanzaki A, Yawata Y
Br J Haematol 1992 Sep;82(1):133-41. PMID: 1419788

Diagnosis

Jamwal M, Aggarwal A, Sachdeva MUS, Sharma P, Malhotra P, Maitra A, Das R
J Clin Pathol 2018 Jul;71(7):648-652. Epub 2018 Mar 20 doi: 10.1136/jclinpath-2018-205018. PMID: 29559519
King MJ, Zanella A
Int J Lab Hematol 2013 Jun;35(3):237-43. Epub 2013 Mar 11 doi: 10.1111/ijlh.12070. PMID: 23480868
Neff AT
Blood 2012 Nov 22;120(22):4283. PMID: 23310983

Therapy

Cagienard F, Schulzki T, Furlong P, Reinhart WH
Clin Hemorheol Microcirc 2013;55(3):321-9. doi: 10.3233/CH-2012-1638. PMID: 23076010
Neff AT
Blood 2012 Nov 22;120(22):4283. PMID: 23310983

Prognosis

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

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
Yawata Y, Kanzaki A, Yawata A, Nakanishi H, Kaku M
Hematology 2001;6(6):399-422. doi: 10.1080/10245332.2001.11746596. PMID: 27405697
Kanzaki A, Yawata Y
Br J Haematol 1992 Sep;82(1):133-41. PMID: 1419788

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