Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Elliptocytosis 3(EL3)

MedGen UID:: 357139
•Concept ID:: C1866810
•: Disease or Syndrome

Synonym:	EL3

Gene (location): Gene(s) directly associated with this condition or phenotype.	SPTB (14q23.3)

Monarch Initiative:	MONDO:0054780
OMIM®:	617948

Definition

Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997). For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (611804). [from OMIM]

Clinical features

From HPO

Intermittent jaundice

MedGen UID:: 871317
•Concept ID:: C4025805
•: Pathologic Function

Jaundice that is sometimes present, sometimes not.

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

Pyropoikilocytosis, hereditary

MedGen UID:: 141708
•Concept ID:: C0520739
•: Disease or Syndrome

Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008).

See: Feature record | Search on this feature

Decreased mean corpuscular volume

MedGen UID:: 1375398
•Concept ID:: C0855790
•: Finding

A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).

See: Feature record | Search on this feature

Chronic hemolytic anemia

MedGen UID:: 237230
•Concept ID:: C1387532
•: Disease or Syndrome

An chronic form of hemolytic anemia.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of blood and blood-forming tissues
Abnormality of the digestive system
- Intermittent jaundice

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary elliptocytosis
- CROGVElliptocytosis 1
- CROGVElliptocytosis 2
- CROGVElliptocytosis 3
- CROGVSoutheast Asian ovalocytosis

Anemia
- Anemia due to reduced life span of red cells
  - Hemolytic anemia
    - Familial hemolytic anemia
      - Anemia due to membrane defect
        Hereditary elliptocytosis
        Elliptocytosis 3

Professional guidelines

PubMed

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. Epub 2015 Mar 18 doi: 10.1111/ijlh.12335. PMID: 25790109

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

See all (2)

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

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

Hereditary red cell membrane disorders and laboratory diagnostic testing.

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

Red blood cell membrane defects.

Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233

Erythroid band 3 variants and disease.

Bruce LJ, Tanner MJ
Baillieres Best Pract Res Clin Haematol 1999 Dec;12(4):637-54. doi: 10.1053/beha.1999.0046. PMID: 10895257

See all (50)

Diagnosis

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Andreoletti G, Seaby EG, Dewing JM, O'Kelly I, Lachlan K, Gilbert RD, Ennis S
J Med Genet 2017 Apr;54(4):269-277. Epub 2016 Nov 3 doi: 10.1136/jmedgenet-2016-104100. PMID: 27811305 Free PMC Article

Hereditary red cell membrane disorders and laboratory diagnostic testing.

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

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

See all (66)

Therapy

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: 30006977 Free 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

Thrombosis of the portal venous system after splenectomy for pediatric hematologic disease.

Skarsgard E, Doski J, Jaksic T, Wesson D, Shandling B, Ein S, Babyn P, Heiss K, Hu X
J Pediatr Surg 1993 Sep;28(9):1109-12. doi: 10.1016/0022-3468(93)90141-7. PMID: 8308671

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

See all (10)

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.

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

MD/DPD Multiscale Framework for Predicting Morphology and Stresses of Red Blood Cells in Health and Disease.

Chang HY, Li X, Li H, Karniadakis GE
PLoS Comput Biol 2016 Oct;12(10):e1005173. Epub 2016 Oct 28 doi: 10.1371/journal.pcbi.1005173. PMID: 27792725 Free PMC Article

See all (17)

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

Band 3-mediated Plasmodium vivax invasion is associated with transcriptional variation in PvTRAg genes.

De Meulenaere K, Prajapati SK, Villasis E, Cuypers B, Kattenberg JH, Kasian B, Laman M, Robinson LJ, Gamboa D, Laukens K, Rosanas-Urgell A
Front Cell Infect Microbiol 2022;12:1011692. Epub 2022 Sep 30 doi: 10.3389/fcimb.2022.1011692. PMID: 36250048 Free PMC Article

Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses.

Yamsri S, Kawon W, Duereh A, Fucharoen G, Fucharoen S
J Pediatr Hematol Oncol 2021 Apr 1;43(3):e341-e345. doi: 10.1097/MPH.0000000000001920. PMID: 32815885

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.

Human anion exchanger1 mutations and distal renal tubular acidosis.

Yenchitsomanus PT
Southeast Asian J Trop Med Public Health 2003 Sep;34(3):651-8. PMID: 15115146

See all (55)

MedGen

National Center for Biotechnology Information

Send to:

Elliptocytosis 3(EL3)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity