Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA.
Blood Cells Mol Dis. 2016 Oct;61:4-9. doi: 10.1016/j.bcmd.2016.07.003. Epub 2016 Jul 17.
Red cell membrane disorders.
Narla J, Mohandas N.
Int J Lab Hematol. 2017 May;39 Suppl 1:47-52. doi: 10.1111/ijlh.12657.
Hereditary elliptocytosis: spectrin and protein 4.1R.
Gallagher PG.
Semin Hematol. 2004 Apr;41(2):142-64. doi: 10.1053/j.seminhematol.2004.01.003.
Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R.
Ann Hematol. 2023 Sep;102(9):2343-2351. doi: 10.1007/s00277-023-05337-9. Epub 2023 Jul 4.
A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
Shih YH, Huang YC, Lin CY, Lin HY, Kuo SF, Lin JS, Shen MC.
Medicine (Baltimore). 2023 Jan 27;102(4):e32708. doi: 10.1097/MD.0000000000032708.
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.
Delaunay J, Alloisio N, Morle L, Baklouti F, Dalla Venezia N, Maillet P, Wilmotte R.
Ann Genet. 1996;39(4):209-21.
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.
Suemori S, Wada H, Nakanishi H, Tsujioka T, Sugihara T, Tohyama K.
Biomed Res Int. 2015;2015:451861. doi: 10.1155/2015/451861. Epub 2015 Oct 18.
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
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. doi: 10.1111/ijlh.12335. Epub 2015 Mar 18.
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation.
Salomao M, Chen K, Villalobos J, Mohandas N, An X, Chasis JA.
Blood. 2010 Jul 15;116(2):267-9. doi: 10.1182/blood-2010-02-264127. Epub 2010 Mar 25.
Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants.
Lecomte MC, Garbarz M, Gautero H, Bournier O, Galand C, Boivin P, Dhermy D.
Br J Haematol. 1993 Nov;85(3):584-95. doi: 10.1111/j.1365-2141.1993.tb03352.x.
