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Elliptocytosis 3(EL3)

MedGen UID:
357139
•Concept ID:
C1866810
•
Disease or Syndrome
Synonym: EL3
 
Gene (location): 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
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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

Recent clinical studies

Etiology

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

Diagnosis

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
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
Schistocytes in erythroleukemia.
Atkins JN, Muss HB
Am J Med Sci 1985 Mar;289(3):110-3. doi: 10.1097/00000441-198503000-00004. PMID: 3856384

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: 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
A case of distal renal tubular acidosis, Southeast Asian ovalocytosis and possible fluorosis.
Vithanage JP, Ekanayake M
Ceylon Med J 2009 Mar;54(1):19-20. doi: 10.4038/cmj.v54i1.469. PMID: 19391452
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
Pediatric laparoscopic splenectomy using the lateral approach.
Fitzgerald PG, Langer JC, Cameron BH, Park AE, Marcaccio MJ, Walton JM, Skinner MA
Surg Endosc 1996 Aug;10(8):859-61. doi: 10.1007/BF00189553. PMID: 8694957

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
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
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: 27792725Free 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

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: 36250048Free 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
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
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

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