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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
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
Reithmeier RA, Casey JR, Kalli AC, Sansom MS, Alguel Y, Iwata S
Biochim Biophys Acta 2016 Jul;1858(7 Pt A):1507-32. Epub 2016 Apr 6 doi: 10.1016/j.bbamem.2016.03.030. PMID: 27058983
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

Diagnosis

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
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
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
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
Prevalence of haemoglobinopathies in school children in Jordan Valley.
Bashir N, Barkawi M, Sharif L
Ann Trop Paediatr 1991;11(4):373-6. doi: 10.1080/02724936.1991.11747532. PMID: 1721797
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
Three Novel Spectrin Variants in Jaundiced Neonates.
Christensen RD, Agarwal AM, Yaish HM, Reading NS, O'Brien EA, Prchal JT
Clin Pediatr (Phila) 2018 Jan;57(1):19-26. Epub 2017 Jan 15 doi: 10.1177/0009922816687326. PMID: 28090778
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
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
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
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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