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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
Red blood cell defects and malaria.
Williams TN
Mol Biochem Parasitol 2006 Oct;149(2):121-7. Epub 2006 Jun 9 doi: 10.1016/j.molbiopara.2006.05.007. PMID: 16797741
Genetic disorders of the red cell membrane.
Delaunay J
Crit Rev Oncol Hematol 1995 Jun;19(2):79-110. doi: 10.1016/1040-8428(94)00139-k. PMID: 7612181
Pathobiochemical aspects of cytoskeleton components.
Kunze D, Rüstow B
Eur J Clin Chem Clin Biochem 1993 Aug;31(8):477-89. doi: 10.1515/cclm.1993.31.8.477. PMID: 8218579

Diagnosis

Elevated MCHC reveals a Southeast Asian Ovalocytosis.
Souissi M, Daliphard S, Picard V, Lebigot E, Jardin F, Bobée V
Am J Hematol 2024 Feb;99(2):331-332. Epub 2023 Nov 15 doi: 10.1002/ajh.27157. PMID: 37966962
An usual cause of elliptocytosis.
Broséus J, Roth-Guépin G, D'Aveni-Piney M, Perrot A, Lesesve JF, Perrin J
Ann Biol Clin (Paris) 2016 Dec 1;74(6):704-707. doi: 10.1684/abc.2016.1191. PMID: 27734802
Hereditary red cell membrane defects: diagnostic and clinical aspects.
Barcellini W, Bianchi P, Fermo E, Imperiali FG, Marcello AP, Vercellati C, Zaninoni A, Zanella A
Blood Transfus 2011 Jul;9(3):274-7. Epub 2011 Jan 13 doi: 10.2450/2011.0086-10. PMID: 21251470Free PMC Article
Pathobiochemical aspects of cytoskeleton components.
Kunze D, Rüstow B
Eur J Clin Chem Clin Biochem 1993 Aug;31(8):477-89. doi: 10.1515/cclm.1993.31.8.477. PMID: 8218579
Hematologic indications for splenectomy.
Dameshek HL, Ellis LD
Surg Clin North Am 1975 Apr;55(2):253-275. doi: 10.1016/s0039-6109(16)40580-3. PMID: 1093264

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
South-East Asian ovalocytosis among the population of the Highlands of Madagascar: a vestigé of the island's settlement.
Rabe T, Jambou R, Rabarijaona L, Raharimalala L, Rason MA, Ariey F, Dhermy D
Trans R Soc Trop Med Hyg 2002 Mar-Apr;96(2):143-4. doi: 10.1016/s0035-9203(02)90282-8. PMID: 12055801
Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis.
Kaitwatcharachai C, Vasuvattakul S, Yenchitsomanus Pt, Thuwajit P, Malasit P, Chuawatana D, Mingkum S, Halperin ML, Wilairat P, Nimmannit S
Am J Kidney Dis 1999 Jun;33(6):1147-52. doi: 10.1016/s0272-6386(99)70154-x. PMID: 10352205
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
Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain.
Zhang Z, Weed SA, Gallagher PG, Morrow JS
Blood 2001 Sep 15;98(6):1645-53. doi: 10.1182/blood.v98.6.1645. PMID: 11535493
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
Br J Haematol 2000 Dec;111(3):924-33. PMID: 11122157
A study of red cell membrane properties in relation to malarial invasion.
Rangachari K, Beaven GH, Nash GB, Clough B, Dluzewski AR, Myint-Oo, Wilson RJ, Gratzer WB
Mol Biochem Parasitol 1989 Apr;34(1):63-74. doi: 10.1016/0166-6851(89)90020-0. PMID: 2651918

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
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
Br J Haematol 2000 Dec;111(3):924-33. PMID: 11122157
Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).
Perrotta S, Miraglia del Giudice E, Alloisio N, Sciarratta G, Pinto L, Delaunay J, Cutillo S, Iolascon A
Blood 1994 Jun 1;83(11):3346-9. PMID: 8193371
Autoantibody against erythrocyte protein 4.1 in a patient with autoimmune hemolytic anemia.
Wakui H, Imai H, Kobayashi R, Itoh H, Notoya T, Yoshida K, Nakamoto Y, Miura AB
Blood 1988 Aug;72(2):408-12. PMID: 3401589

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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