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Elliptocytosis 2(EL2)

MedGen UID:
343643
•Concept ID:
C1851741
•
Disease or Syndrome
Synonyms: EL2; ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
 
Gene (location): SPTA1 (1q23.1)
 
Monarch Initiative: MONDO:0007533
OMIM®: 130600

Definition

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene. [from MONDO]

Clinical features

From HPO
Hemolytic anemia
MedGen UID:
1916
•Concept ID:
C0002878
•
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
See: Feature record | Search on this feature
Reticulocytosis
MedGen UID:
60089
•Concept ID:
C0206160
•
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
See: Feature record | Search on this feature
Elliptocytosis
MedGen UID:
98107
•Concept ID:
C0427480
•
Finding
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
See: Feature record | Search on this feature
Neonatal hyperbilirubinemia
MedGen UID:
208991
•Concept ID:
C0857007
•
Disease or Syndrome
A type of hyperbilirubinemia with neonatal onset.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants.
Christensen RD, Agarwal AM, Nussenzveig RH, Heikal N, Liew MA, Yaish HM
J Perinatol 2015 May;35(5):357-61. Epub 2014 Nov 6 doi: 10.1038/jp.2014.202. PMID: 25357094

Recent clinical studies

Etiology

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. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730
Inherited hemolytic anemia: a possessive beginner's guide.
Mohandas N
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):377-381. doi: 10.1182/asheducation-2018.1.377. PMID: 30504335Free PMC Article
The Gerbich blood group system: a review.
Walker PS, Reid ME
Immunohematology 2010;26(2):60-5. PMID: 20932076
Red blood cell membrane defects.
Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233
Red cell membrane polypeptides under normal conditions and in genetic disorders.
Delaunay J
Transfus Clin Biol 1995;2(4):207-16. doi: 10.1016/s1246-7820(05)80086-2. PMID: 8542017

Diagnosis

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. PMID: 36705355Free PMC Article
Inherited hemolytic anemia: a possessive beginner's guide.
Mohandas N
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):377-381. doi: 10.1182/asheducation-2018.1.377. PMID: 30504335Free PMC Article
Red blood cell membrane defects.
Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233
Red blood cell membrane disorders.
Tse WT, Lux SE
Br J Haematol 1999 Jan;104(1):2-13. doi: 10.1111/j.1365-2141.1999.01130.x. PMID: 10027705
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. PMID: 9037349

Therapy

Association between ovalocytosis and Plasmodium infection: a systematic review and meta-analysis.
Kotepui KU, Mahittikorn A, Masangkay FR, Kotepui M
Sci Rep 2023 May 3;13(1):7164. doi: 10.1038/s41598-023-34170-3. PMID: 37137935Free PMC Article
Accurate light microscopic diagnosis of South-East Asian ovalocytosis.
Nixon CP, Satyagraha AW, Baird GL, Harahap AR, Panggalo LV, Ekawati LL, Sutanto I, Syafruddin D, Kevin Baird J
Int J Lab Hematol 2018 Dec;40(6):655-662. Epub 2018 Jul 13 doi: 10.1111/ijlh.12900. PMID: 30006977Free PMC Article
Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.
Llaudet-Planas E, Vives-Corrons JL, Rizzuto V, Gómez-Ramírez P, Sevilla Navarro J, Coll Sibina MT, García-Bernal M, Ruiz Llobet A, Badell I, Velasco-Puyó P, Dapena JL, Mañú-Pereira MM
Int J Lab Hematol 2018 Feb;40(1):94-102. Epub 2017 Oct 10 doi: 10.1111/ijlh.12746. PMID: 29024480
Risk factors, complications, and outcomes of gallstones in children: a single-center review.
Bogue CO, Murphy AJ, Gerstle JT, Moineddin R, Daneman A
J Pediatr Gastroenterol Nutr 2010 Mar;50(3):303-8. doi: 10.1097/MPG.0b013e3181b99c72. PMID: 20118803
Inherited disorders of the red cell membrane skeleton.
Lux SE, Wolfe LC
Pediatr Clin North Am 1980 May;27(2):463-86. doi: 10.1016/s0031-3955(16)33862-7. PMID: 6992078

Prognosis

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. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730
Accurate light microscopic diagnosis of South-East Asian ovalocytosis.
Nixon CP, Satyagraha AW, Baird GL, Harahap AR, Panggalo LV, Ekawati LL, Sutanto I, Syafruddin D, Kevin Baird J
Int J Lab Hematol 2018 Dec;40(6):655-662. Epub 2018 Jul 13 doi: 10.1111/ijlh.12900. PMID: 30006977Free PMC Article
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N
Gene 2017 Mar 30;606:47-52. Epub 2017 Jan 9 doi: 10.1016/j.gene.2017.01.001. PMID: 28089922
Fetal anemia of unknown cause--a diagnostic challenge.
Amann C, Geipel A, Müller A, Heep A, Ritgen J, Stressig R, Kozlowski P, Gembruch U, Berg C
Ultraschall Med 2011 Dec;32 Suppl 2:E134-40. Epub 2011 Dec 9 doi: 10.1055/s-0031-1281756. PMID: 22161617
Red cell membrane polypeptides under normal conditions and in genetic disorders.
Delaunay J
Transfus Clin Biol 1995;2(4):207-16. doi: 10.1016/s1246-7820(05)80086-2. PMID: 8542017

Clinical prediction guides

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. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730
Membrane skeleton hyperstability due to a novel alternatively spliced 4.1R can account for ellipsoidal camelid red cells with decreased deformability.
Chen Y, Miyazono K, Otsuka Y, Kanamori M, Yamashita A, Arashiki N, Matsumoto T, Takada K, Sato K, Mohandas N, Inaba M
J Biol Chem 2023 Feb;299(2):102877. Epub 2023 Jan 6 doi: 10.1016/j.jbc.2023.102877. PMID: 36621628Free PMC Article
Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.
Pollet H, Cloos AS, Stommen A, Vanderroost J, Conrard L, Paquot A, Ghodsi M, Carquin M, Léonard C, Guthmann M, Lingurski M, Vermylen C, Killian T, Gatto L, Rider M, Pyr Dit Ruys S, Vertommen D, Vikkula M, Brouillard P, Van Der Smissen P, Muccioli GG, Tyteca D
Biomolecules 2020 Jul 29;10(8) doi: 10.3390/biom10081120. PMID: 32751168Free PMC Article
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N
Gene 2017 Mar 30;606:47-52. Epub 2017 Jan 9 doi: 10.1016/j.gene.2017.01.001. PMID: 28089922
Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 cases.
Dhermy D, Garbarz M, Lecomte MC, Féo C, Bournier O, Chaveroche I, Gautero H, Galand C, Boivin P
Nouv Rev Fr Hematol (1978) 1986;28(3):129-40. PMID: 3748797

Recent systematic reviews

Association between ovalocytosis and Plasmodium infection: a systematic review and meta-analysis.
Kotepui KU, Mahittikorn A, Masangkay FR, Kotepui M
Sci Rep 2023 May 3;13(1):7164. doi: 10.1038/s41598-023-34170-3. PMID: 37137935Free PMC Article

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