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Advances in understanding the pathogenesis of red cell membrane disorders.
Iolascon A, Andolfo I, Russo R. Iolascon A, et al. Br J Haematol. 2019 Oct;187(1):13-24. doi: 10.1111/bjh.16126. Epub 2019 Jul 31. Br J Haematol. 2019. PMID: 31364155 Free article. Review.
Red blood cell membrane defects encompass a heterogeneous group of haemolytic anaemias caused by either (i) altered membrane structural organisation (hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis and Southeast Asian ovalocytosis) or (ii) alter …
Red blood cell membrane defects encompass a heterogeneous group of haemolytic anaemias caused by either (i) altered membrane structural orga …
Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review.
Furia A, Muccioli L, Santucci M, Licchetta L, Bisulli F. Furia A, et al. Epileptic Disord. 2023 Jun;25(3):410-415. doi: 10.1002/epd2.20039. Epub 2023 Apr 27. Epileptic Disord. 2023. PMID: 36938875 Review.
Cryohydrocytosis is a form of stomatocytosis characterized by the leakage of sodium and potassium from red blood cells at low temperatures, characterized by pseudohyperkalemia. ...We present the case of a patient carrying a novel de novo SLC2A1 pathogenic variant presentin …
Cryohydrocytosis is a form of stomatocytosis characterized by the leakage of sodium and potassium from red blood cells at low tempera …
Hereditary stomatocytosis and cation-leaky red cells--recent developments.
Bruce LJ. Bruce LJ. Blood Cells Mol Dis. 2009 May-Jun;42(3):216-22. doi: 10.1016/j.bcmd.2009.01.014. Epub 2009 Mar 3. Blood Cells Mol Dis. 2009. PMID: 19261491 Review.
Common features include hemolytic anemia, a red cell cation leak and morphological changes, but the severity of the condition can vary enormously. We have previously shown that one form of HSt (cryohydrocytosis), where the monovalent cation leak is increased at low tempera …
Common features include hemolytic anemia, a red cell cation leak and morphological changes, but the severity of the condition can vary enorm …
Cold storage of 'cryohydrocytosis' red cells: the osmotic susceptibility of the cold-stored erythrocyte.
Jarvis HG, Gore DM, Briggs C, Chetty MC, Stewart GW. Jarvis HG, et al. Br J Haematol. 2003 Sep;122(5):859-68. doi: 10.1046/j.1365-2141.2003.04487.x. Br J Haematol. 2003. PMID: 12930402 Free article.
'Cryohydrocytosis' is an unusual human haemolytic anaemia of the 'hereditary stomatocytosis' group, in which the red cell membrane is abnormally permeable to Na and K+ at both body and (even more prominently) refrigerator temperatures. If whole cryohydrocytosis bloo …
'Cryohydrocytosis' is an unusual human haemolytic anaemia of the 'hereditary stomatocytosis' group, in which the red cell membrane is …
Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia.
King MJ, Behrens J, Rogers C, Flynn C, Greenwood D, Chambers K. King MJ, et al. Br J Haematol. 2000 Dec;111(3):924-33. Br J Haematol. 2000. PMID: 11122157
In this study, red cells from patients with hereditary spherocytosis (HS), congenital dyserythropoietic anaemia type II, South-east Asian ovalocytosis and cryohydrocytosis have produced a greater degree of reduction of mean channel fluorescence readings than those for othe …
In this study, red cells from patients with hereditary spherocytosis (HS), congenital dyserythropoietic anaemia type II, South-east Asian ov …
South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.
Guizouarn H, Borgese F, Gabillat N, Harrison P, Goede JS, McMahon C, Stewart GW, Bruce LJ. Guizouarn H, et al. Br J Haematol. 2011 Mar;152(5):655-64. doi: 10.1111/j.1365-2141.2010.08454.x. Epub 2011 Jan 23. Br J Haematol. 2011. PMID: 21255002 Free article.
This report demonstrates the very marked similarities between the cryohydrocytosis form of hereditary stomatocytosis and the common tropical condition south-east Asian ovalocytosis (SAO). ...Extensive electrophysiological studies comparing the cation leak and conductance i …
This report demonstrates the very marked similarities between the cryohydrocytosis form of hereditary stomatocytosis and the common t …
Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis.
Gore DM, Chetty MC, Fisher J, Nicolaou A, Stewart GW. Gore DM, et al. Br J Haematol. 2002 Apr;117(1):212-4. doi: 10.1046/j.1365-2141.2002.03376.x. Br J Haematol. 2002. PMID: 11918557 Free article.
The 'passive leak' to K across the membrane of these abnormal red cells showed a 'U-shaped' temperature dependence, with a minimum at about 23 degrees C, qualitatively similar to that seen in the frankly haemolytic 'cryohydrocytosis' variant of the hereditary stomatocytosi …
The 'passive leak' to K across the membrane of these abnormal red cells showed a 'U-shaped' temperature dependence, with a minimum at about …
Temperature effects on cation transport in hereditary stomatocytosis and allied disorders.
Coles SE, Stewart GW. Coles SE, et al. Int J Exp Pathol. 1999 Oct;80(5):251-8. doi: 10.1046/j.1365-2613.1999.00120.x. Int J Exp Pathol. 1999. PMID: 10607015 Free PMC article. Review.
A number of case reports in the different variants have alluded to temperature-related phenomena, including loss of K on storage at room temperature (giving 'pseudohyperkalaemia') and lysis of cells when stored in the cold ('cryohydrocytosis'). This review collects togethe …
A number of case reports in the different variants have alluded to temperature-related phenomena, including loss of K on storage at room tem …
Pulmonary endarterectomy is effective and safe in patients with haemoglobinopathies and abnormal red blood cells: the Papworth experience.
Mahesh B, Besser M, Ravaglioli A, Pepke-Zaba J, Martinez G, Klein A, Ng C, Tsui S, Dunning J, Jenkins DP. Mahesh B, et al. Eur J Cardiothorac Surg. 2016 Sep;50(3):537-41. doi: 10.1093/ejcts/ezw062. Epub 2016 Mar 17. Eur J Cardiothorac Surg. 2016. PMID: 26987879
There were 9 patients with sickle cell trait, 2 with coexisting alpha+ thalassaemia trait, 2 patients with HbSC disease, 2 patients with beta-thalassaemia major, 3 patients with hereditary spherocytosis, 2 patients with stomatocytosis (one with the cryohydrocytosis subtype …
There were 9 patients with sickle cell trait, 2 with coexisting alpha+ thalassaemia trait, 2 patients with HbSC disease, 2 patients with bet …
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.
Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L. Iolascon A, et al. Haematologica. 2009 Aug;94(8):1049-59. doi: 10.3324/haematol.2008.002873. Haematologica. 2009. PMID: 19644137 Free PMC article.
BACKGROUND: Stomatocytoses are a group of inherited autosomal dominant hemolytic anemias and include overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis, hereditary cryohydrocytosis and familial pseudohyperkalemia. DESIGN AND METHODS: We report a n …
BACKGROUND: Stomatocytoses are a group of inherited autosomal dominant hemolytic anemias and include overhydrated hereditary stomatocytosis, …