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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
Sign or Symptom
Jaundice that is sometimes present, sometimes not.
Elliptocytosis
MedGen UID:
98107
Concept ID:
C0427480
Finding
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
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).
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).
Chronic hemolytic anemia
MedGen UID:
237230
Concept ID:
C1387532
Disease or Syndrome
An chronic form of hemolytic anemia.

Professional guidelines

PubMed

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
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

Warang P, Gupta M, Kedar P, Ghosh K, Colah R
Cytometry B Clin Cytom 2011 May;80(3):186-90. Epub 2011 Feb 4 doi: 10.1002/cyto.b.20583. PMID: 21298775
Laosombat V, Viprakasit V, Dissaneevate S, Leetanaporn R, Chotsampancharoen T, Wongchanchailert M, Kodchawan S, Thongnoppakun W, Duangchu S
Blood Cells Mol Dis 2010 Jun 15;45(1):29-32. Epub 2010 Apr 24 doi: 10.1016/j.bcmd.2010.03.010. PMID: 20421175
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
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
Delaunay J, Alloisio N, Morlé L, Pothier B
Mol Aspects Med 1990;11(3):161-241. doi: 10.1016/0098-2997(90)90001-i. PMID: 2403451

Diagnosis

Bobée V, Daliphard S, Lahary A
Ann Biol Clin (Paris) 2020 Jun 1;78(3):343. doi: 10.1684/abc.2020.1552. PMID: 32420885
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
Kahwash E, Bauer P, Yearsley M
Lab Hematol 2007;13(3):113-4. doi: 10.1532/LH96.07010. PMID: 17984044
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
Dacie JV
J R Coll Physicians Lond 1974 Apr;8(3):206-19. PMID: 4824998Free PMC Article

Therapy

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
Vithanage JP, Ekanayake M
Ceylon Med J 2009 Mar;54(1):19-20. doi: 10.4038/cmj.v54i1.469. PMID: 19391452
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
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
Nkrumah FK
Afr J Med Sci 1972 Apr;3(2):131-6. PMID: 5028468

Prognosis

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
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
Lam VQ, Antoniou C, Rolius R, Fung LW
Br J Haematol 2009 Nov;147(3):392-5. Epub 2009 Aug 31 doi: 10.1111/j.1365-2141.2009.07876.x. PMID: 19747366Free PMC Article
King MJ, Behrens J, Rogers C, Flynn C, Greenwood D, Chambers K
Br J Haematol 2000 Dec;111(3):924-33. PMID: 11122157
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

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
Moulin PA, Nivaggioni V, Saut N, Grosdidier C, Bernot D, Baccini V
Ann Biol Clin (Paris) 2017 Dec 1;75(6):699-702. doi: 10.1684/abc.2017.1291. PMID: 29043981
Laosombat V, Viprakasit V, Dissaneevate S, Leetanaporn R, Chotsampancharoen T, Wongchanchailert M, Kodchawan S, Thongnoppakun W, Duangchu S
Blood Cells Mol Dis 2010 Jun 15;45(1):29-32. Epub 2010 Apr 24 doi: 10.1016/j.bcmd.2010.03.010. PMID: 20421175
Lam VQ, Antoniou C, Rolius R, Fung LW
Br J Haematol 2009 Nov;147(3):392-5. Epub 2009 Aug 31 doi: 10.1111/j.1365-2141.2009.07876.x. PMID: 19747366Free PMC Article
King MJ, Behrens J, Rogers C, Flynn C, Greenwood D, Chambers K
Br J Haematol 2000 Dec;111(3):924-33. PMID: 11122157

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