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Elliptocytosis 2(EL2)

MedGen UID:
343643
Concept ID:
C1851741
Disease or Syndrome
Synonyms: EL2; ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
Modes of inheritance:
Heterogeneous
MedGen UID:
5539
Concept ID:
C0019409
Qualitative Concept
Made up of elements or ingredients that are not alike.
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: SPTA1
Cytogenetic location: 1q23.1
OMIM: 130600

Clinical features

Elliptocytosis
MedGen UID:
98107
Concept ID:
C0427480
Finding
Elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to hemolytic anemia.

Recent clinical studies

Etiology

King MJ, Jepson MA, Guest A, Mushens R
Int J Lab Hematol 2011 Apr;33(2):205-11. Epub 2010 Nov 3 doi: 10.1111/j.1751-553X.2010.01270.x. [Epub ahead of print] PMID: 21054813
Gallagher PG
Semin Hematol 2004 Apr;41(2):142-64. PMID: 15071791
Maillet P, Alloisio N, Morlé L, Delaunay J
Hum Mutat 1996;8(2):97-107. doi: 10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M. PMID: 8844207
Gallagher PG, Kotula L, Wang Y, Marchesi SL, Curtis PJ, Speicher DW, Forget BG
Am J Hum Genet 1996 Aug;59(2):351-9. PMID: 8755921Free PMC Article
Lecomte MC, Dhermy D, Solis C, Ester A, Féo C, Gautero H, Bournier O, Boivin P
Blood 1985 May;65(5):1208-17. PMID: 3922449

Diagnosis

Swierczek S, Agarwal AM, Naidoo K, Lorenzo FR, Whisenant J, Nussenzveig RH, Agarwal N, Coetzer TL, Prchal JT
Haematologica 2013 Dec;98(12):1972-9. Epub 2013 Sep 27 doi: 10.3324/haematol.2013.086629. [Epub ahead of print] PMID: 24077844Free PMC Article
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. [Epub ahead of print] PMID: 21251470Free PMC Article
Maillet P, Alloisio N, Morlé L, Delaunay J
Hum Mutat 1996;8(2):97-107. doi: 10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M. PMID: 8844207
Taketazu F, Sanada I, Ngamatsu N, Mukai R, Suetomo Y, Toyoda N, Takada M, Hida K, Kubota K, Maezawa M
Jpn J Med 1984 May;23(2):139-43. PMID: 6727059
Coetzer T, Zail S
Blood 1982 May;59(5):900-5. PMID: 7074218

Therapy

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. 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. PMID: 10352205
Bashir N, Barkawi M, Sharif L
Ann Trop Paediatr 1991;11(4):373-6. PMID: 1721797
Lux SE, Wolfe LC
Pediatr Clin North Am 1980 May;27(2):463-86. PMID: 6992078
Nkrumah FK
Afr J Med Sci 1972 Apr;3(2):131-6. PMID: 5028468

Prognosis

King MJ, Jepson MA, Guest A, Mushens R
Int J Lab Hematol 2011 Apr;33(2):205-11. Epub 2010 Nov 3 doi: 10.1111/j.1751-553X.2010.01270.x. [Epub ahead of print] PMID: 21054813
Zhang Z, Weed SA, Gallagher PG, Morrow JS
Blood 2001 Sep 15;98(6):1645-53. PMID: 11535493
Vitelli F, Piccini M, Caroli F, Franco B, Malandrini A, Pober B, Jonsson J, Sorrentino V, Renieri A
Genomics 1999 Feb 1;55(3):335-40. doi: 10.1006/geno.1998.5666. PMID: 10049589
Delaunay J
Transfus Clin Biol 1995;2(4):207-16. PMID: 8542017
Djaldetti M, Cohen A, Hart J
Acta Haematol 1984;72(1):26-8. PMID: 6433628

Clinical prediction guides

Baklouti F, Morinière M, Haj-Khélil A, Fénéant-Thibault M, Gruffat H, Couté Y, Ninot A, Guitton C, Delaunay J
Blood Cells Mol Dis 2011 Oct 15;47(3):158-65. Epub 2011 Aug 11 doi: 10.1016/j.bcmd.2011.07.001. [Epub ahead of print] PMID: 21839655
King MJ, Jepson MA, Guest A, Mushens R
Int J Lab Hematol 2011 Apr;33(2):205-11. Epub 2010 Nov 3 doi: 10.1111/j.1751-553X.2010.01270.x. [Epub ahead of print] PMID: 21054813
Pranke PH, Basseres DS, Costa FF, Saad ST
Br J Haematol 1996 Sep;94(3):470-5. PMID: 8790144
Streichman S, Herz E, Tatarsky I
Am J Hematol 1990 Feb;33(2):123-7. PMID: 2301371
Tchernia G, Mohandas N, Shohet SB
J Clin Invest 1981 Aug;68(2):454-60. PMID: 6894932Free PMC Article

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