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Hereditary stomatocytosis

MedGen UID:
490161
Concept ID:
C1262483
Disease or Syndrome
Synonyms: Hereditary hydrocytosis; Hereditary stomatocytic disease; hereditary stomatocytic disease; hereditary stomatocytosis
SNOMED CT: Hereditary stomatocytosis (14087004); Hereditary hydrocytosis (14087004)
 
Monarch Initiative: MONDO:0020102
Orphanet: ORPHA98365

Professional guidelines

PubMed

Andolfo I, Russo R, Rosato BE, Manna F, Gambale A, Brugnara C, Iolascon A
Am J Hematol 2018 Dec;93(12):1509-1517. Epub 2018 Oct 2 doi: 10.1002/ajh.25276. PMID: 30187933
King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A; International Council for Standardization in Haematology
Int J Lab Hematol 2015 Jun;37(3):304-25. Epub 2015 Mar 18 doi: 10.1111/ijlh.12335. PMID: 25790109

Recent clinical studies

Etiology

Chen Z, Wang X, Teng Z, Liu M, Liu F, Huang J, Liu Z
J Affect Disord 2024 Apr 1;350:582-589. Epub 2024 Jan 19 doi: 10.1016/j.jad.2024.01.169. PMID: 38246286
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
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
Bruce LJ
Blood Cells Mol Dis 2009 May-Jun;42(3):216-22. Epub 2009 Mar 3 doi: 10.1016/j.bcmd.2009.01.014. PMID: 19261491
Delaunay J, Stewart G, Iolascon A
Curr Opin Hematol 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. PMID: 10088641

Diagnosis

Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free 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
King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A; International Council for Standardization in Haematology
Int J Lab Hematol 2015 Jun;37(3):304-25. Epub 2015 Mar 18 doi: 10.1111/ijlh.12335. PMID: 25790109
Delaunay J, Stewart G, Iolascon A
Curr Opin Hematol 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. PMID: 10088641
Stewart GW
Int J Biochem Cell Biol 1997 Feb;29(2):271-4. doi: 10.1016/s1357-2725(96)00072-6. PMID: 9147127

Therapy

Chen Z, Wang X, Teng Z, Liu M, Liu F, Huang J, Liu Z
J Affect Disord 2024 Apr 1;350:582-589. Epub 2024 Jan 19 doi: 10.1016/j.jad.2024.01.169. PMID: 38246286
Romero LO, Massey AE, Mata-Daboin AD, Sierra-Valdez FJ, Chauhan SC, Cordero-Morales JF, Vásquez V
Nat Commun 2019 Mar 13;10(1):1200. doi: 10.1038/s41467-019-09055-7. PMID: 30867417Free PMC Article
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
Bruce LJ
Blood Cells Mol Dis 2009 May-Jun;42(3):216-22. Epub 2009 Mar 3 doi: 10.1016/j.bcmd.2009.01.014. PMID: 19261491
Gallagher PG
Hematology Am Soc Hematol Educ Program 2005:13-8. doi: 10.1182/asheducation-2005.1.13. PMID: 16304353

Prognosis

Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Song A, Lu L, Li Y, Lin M, Yuan X, Cheng X, Xia W, Wang O, Xing X
Front Endocrinol (Lausanne) 2020;11:356. Epub 2020 Jun 19 doi: 10.3389/fendo.2020.00356. PMID: 32636802Free PMC Article
Andolfo I, Russo R, Rosato BE, Manna F, Gambale A, Brugnara C, Iolascon A
Am J Hematol 2018 Dec;93(12):1509-1517. Epub 2018 Oct 2 doi: 10.1002/ajh.25276. PMID: 30187933
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
Gallagher PG, Turetsky T, Mentzer WC
Genomics 1996 Jun 15;34(3):410-2. doi: 10.1006/geno.1996.0304. PMID: 8786142

Clinical prediction guides

Andolfo I, Monaco V, Cozzolino F, Rosato BE, Marra R, Cerbone V, Pinto VM, Forni GL, Unal S, Iolascon A, Monti M, Russo R
Blood Adv 2023 Jun 27;7(12):2681-2693. doi: 10.1182/bloodadvances.2022008673. PMID: 36595486Free PMC Article
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
Zama D, Giulietti G, Muratore E, Andolfo I, Russo R, Iolascon A, Pession A
Ital J Pediatr 2020 Jul 23;46(1):102. doi: 10.1186/s13052-020-00864-x. PMID: 32703298Free PMC Article
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: 28496185Free PMC Article
Beaurain G, Mathieu F, Grootenboer S, Fiquet B, Cynober T, Tchernia G, Delaunay J, Jeunemaitre X
Eur J Haematol 2007 Mar;78(3):253-9. Epub 2007 Jan 23 doi: 10.1111/j.1600-0609.2006.00811.x. PMID: 17253968

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