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Stomatocytosis I

Also Known As:

Overhydrated Hereditary Stomatocytosis; Potassium-Sodium Disorder Of Erythrocyte

Networked: 10 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hemolytic Anemia

Experts

1.	Stewart, Gordon W: 4 articles (02/2009 - 03/2003)
2.	Delaunay, Jean: 3 articles (12/2011 - 01/2002)
3.	Bruce, Lesley J: 2 articles (01/2022 - 02/2009)
4.	Flatt, Joanna F: 2 articles (01/2022 - 02/2009)
5.	Fricke, Britta: 2 articles (10/2005 - 09/2003)
6.	von Düring, Monika: 2 articles (10/2005 - 09/2003)
7.	Iolascon, Achille: 2 articles (09/2003 - 03/2003)
8.	Kupzig, Sabine: 1 article (01/2022)
9.	Stevens-Hernandez, Christian J: 1 article (01/2022)
10.	Boeckstaens, Mélanie: 1 article (01/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Stomatocytosis I:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "By comparing the profile of a pure reticulocyte preparation of cultured red cells with these variant cells, we show that the largest of these cells, the overhydrated hereditary stomatocytosis cells, are the least mature, they barely reduced their plasma membrane and contain large amounts of proteins that should have been reduced or removed. " 09/15/2003 - "The "stomatin" gene and protein in overhydrated hereditary stomatocytosis." 03/01/1999 - "The cause of overhydrated hereditary stomatocytosis remains elusive despite the manifest lack of the enigmatic protein stomatin in the erythrocyte membrane. "
2.	Membrane Proteins (Integral Membrane Proteins)IBA 10/01/2005 - "The 32 kD lipid-raft-associated membrane protein 'stomatin' is deficient from the erythrocyte membrane in the Na+-K+ leaky haemolytic anaemia, overhydrated hereditary stomatocytosis (OHSt). " 09/15/2003 - "In overhydrated hereditary stomatocytosis (OHSt), Coomassie- and silver-stained polyacrylamide gels show an apparently complete deficit of the 32-kDa membrane protein, stomatin. "
3.	Monovalent CationsIBA 02/05/2009 - "Overhydrated hereditary stomatocytosis (OHSt) is a rare dominantly inherited hemolytic anemia characterized by a profuse membrane leak to monovalent cations. " 12/01/2011 - "Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. "
4.	Ammonium CompoundsIBA 01/01/2013 - "The HsRhAG variants (I61R, F65S) associated to overhydrated hereditary stomatocytosis (OHSt), a disease affecting erythrocytes, proved affected in intrinsic bidirectional ammonium transport. "
5.	SodiumIBA 05/01/2001 - "Overhydrated hereditary stomatocytosis is characterized by alteration of the normal transmembrane gradients of sodium and potassium. "
6.	SilverIBA 09/15/2003 - "In overhydrated hereditary stomatocytosis (OHSt), Coomassie- and silver-stained polyacrylamide gels show an apparently complete deficit of the 32-kDa membrane protein, stomatin. "
7.	PotassiumIBA 05/01/2001 - "Overhydrated hereditary stomatocytosis is characterized by alteration of the normal transmembrane gradients of sodium and potassium. "
8.	LipidsIBA 10/01/2005 - "The 32 kD lipid-raft-associated membrane protein 'stomatin' is deficient from the erythrocyte membrane in the Na+-K+ leaky haemolytic anaemia, overhydrated hereditary stomatocytosis (OHSt). "
9.	Glycoproteins (Glycoprotein)IBA 12/01/2011 - "Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. "
10.	Glutathione (Reduced Glutathione)IBA 12/01/2011 - "Although no major oxydative stress has been reported in patients with overhydrated hereditary stomatocytosis, we found decreased amounts of oxydized glutathione, creatine and ergothioneine, suggesting transporter abnormalities and/or uncharacterized oxydative stress. "

Therapies and Procedures

1.	Splenectomy 03/01/2003 - "Splenectomy is strictly contraindicated in DHS and another disease of the same class, overhydrated hereditary stomatocytosis, because it increases the risk of thromboembolic accidents." 01/01/2002 - "Concerning DHS and another disease of the same class, overhydrated hereditary stomatocytosis, splenectomy almost certainly appears to elicit thromboembolic accidents."