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Spherocytosis type 5(SPH5)

MedGen UID:
436371
Concept ID:
C2675192
Disease or Syndrome
Synonyms: EPB42-Related Hereditary Spherocytosis; EPB42-Related Spherocytosis; SPH5; SPHEROCYTOSIS, HEREDITARY, 5
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): EPB42 (15q15.2)
OMIM®: 612690

Disease characteristics

Excerpted from the GeneReview: EPB42-Related Hereditary Spherocytosis
EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic non-immune hemolytic anemia that is usually of mild to moderate severity. EPB42-HS can present with jaundice as early as the first 24 hours of life or can present later in childhood with anemia resulting from a hemolytic crisis or aplastic crisis (usually associated with a viral infection). In addition to the hematologic manifestations, serious complications include splenomegaly that can become evident in early childhood and cholelithiasis that usually becomes evident in the second or third decade of life. [from GeneReviews]
Authors:
Theodosia A Kalfa  |  Jessica A Connor  |  Amber H Begtrup   view full author information

Additional descriptions

From NCBI curation
EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic non-immune hemolytic anemia that is usually of mild to moderate severity. EPB42-HS can present with jaundice as early as the first 24 hours of life or can present later in childhood with anemia resulting from a hemolytic crisis or aplastic crisis (usually associated with a viral infection). In addition to the hematologic manifestations, serious complications include splenomegaly that can become evident in early childhood and cholelithiasis that usually becomes evident in the second or third decade of life.
From GHR
Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.  https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis

Clinical features

Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Spherocytosis
MedGen UID:
154301
Concept ID:
C0553720
Finding
The presence of erythrocytes that are sphere-shaped.

Recent clinical studies

Etiology

Hunt L, Greenwood D, Heimpel H, Noel N, Whiteway A, King MJ
Cytometry B Clin Cytom 2015 Jan;88(1):50-7. Epub 2014 Sep 16 doi: 10.1002/cyto.b.21187. [Epub ahead of print] PMID: 25227211
Ruparel RK, Bogert JN, Moir CR, Ishitani MB, Khan SP, Rodriguez V, Zarroug AE
J Pediatr Surg 2014 Mar;49(3):433-5. doi: 10.1016/j.jpedsurg.2013.05.012. PMID: 24650472
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. PMID: 24632695
Bianchi P, Fermo E, Vercellati C, Marcello AP, Porretti L, Cortelezzi A, Barcellini W, Zanella A
Haematologica 2012 Apr;97(4):516-23. Epub 2011 Nov 4 doi: 10.3324/haematol.2011.052845. [Epub ahead of print] PMID: 22058213Free PMC Article
Crisp RL, Solari L, Vota D, García E, Miguez G, Chamorro ME, Schvartzman GA, Alfonso G, Gammella D, Caldarola S, Riccheri C, Vittori D, Venegas B, Nesse A, Donato H
Ann Hematol 2011 Jun;90(6):625-34. Epub 2010 Nov 16 doi: 10.1007/s00277-010-1112-0. [Epub ahead of print] PMID: 21080168

Diagnosis

Tao YF, Deng ZF, Liao L, Qiu YL, Chen WQ, Lin FQ
Ann Hematol 2015 May;94(5):747-51. Epub 2014 Dec 12 doi: 10.1007/s00277-014-2270-2. [Epub ahead of print] PMID: 25501660
Hunt L, Greenwood D, Heimpel H, Noel N, Whiteway A, King MJ
Cytometry B Clin Cytom 2015 Jan;88(1):50-7. Epub 2014 Sep 16 doi: 10.1002/cyto.b.21187. [Epub ahead of print] PMID: 25227211
Nussenzveig RH, Christensen RD, Prchal JT, Yaish HM, Agarwal AM
Neonatology 2014;106(4):355-7. Epub 2014 Oct 1 doi: 10.1159/000365586. [Epub ahead of print] PMID: 25277063
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. PMID: 24632695
Bianchi P, Fermo E, Vercellati C, Marcello AP, Porretti L, Cortelezzi A, Barcellini W, Zanella A
Haematologica 2012 Apr;97(4):516-23. Epub 2011 Nov 4 doi: 10.3324/haematol.2011.052845. [Epub ahead of print] PMID: 22058213Free PMC Article

Therapy

Laflamme K, Owen AN, Devlin EE, Yang MQ, Wong C, Steiner LA, Garrett LJ, Elnitski L, Gallagher PG, Bodine DM
Mol Cell Biol 2010 Jul;30(14):3493-502. Epub 2010 May 17 doi: 10.1128/MCB.00119-10. [Epub ahead of print] PMID: 20479128Free PMC Article
Altintas E, Sezgin O
Med Hypotheses 2004;63(5):834-7. doi: 10.1016/j.mehy.2004.03.031. PMID: 15488656
Kristensen K
Scand J Infect Dis 1992;24(5):629-32. PMID: 1465581
Johansson T, Boström H, Sjödahl R, Ihse I
Acta Chir Scand 1990 Jan;156(1):83-6. PMID: 2321442

Prognosis

Nussenzveig RH, Christensen RD, Prchal JT, Yaish HM, Agarwal AM
Neonatology 2014;106(4):355-7. Epub 2014 Oct 1 doi: 10.1159/000365586. [Epub ahead of print] PMID: 25277063
Ruparel RK, Bogert JN, Moir CR, Ishitani MB, Khan SP, Rodriguez V, Zarroug AE
J Pediatr Surg 2014 Mar;49(3):433-5. doi: 10.1016/j.jpedsurg.2013.05.012. PMID: 24650472
Crisp RL, Solari L, Vota D, García E, Miguez G, Chamorro ME, Schvartzman GA, Alfonso G, Gammella D, Caldarola S, Riccheri C, Vittori D, Venegas B, Nesse A, Donato H
Ann Hematol 2011 Jun;90(6):625-34. Epub 2010 Nov 16 doi: 10.1007/s00277-010-1112-0. [Epub ahead of print] PMID: 21080168
Heruth DP, Hawkins T, Logsdon DP, Gibson MI, Sokolovsky IV, Nsumu NN, Major SL, Fegley B, Woods GM, Lewing KB, Neville KA, Cornetta K, Peterson KR, White RA
Genomics 2010 Nov;96(5):303-7. Epub 2010 Aug 5 doi: 10.1016/j.ygeno.2010.07.009. [Epub ahead of print] PMID: 20691777
Werner B, Lindahl J
Scand J Clin Lab Invest 1980 Jun;40(4):319-24. PMID: 7414250

Clinical prediction guides

Nussenzveig RH, Christensen RD, Prchal JT, Yaish HM, Agarwal AM
Neonatology 2014;106(4):355-7. Epub 2014 Oct 1 doi: 10.1159/000365586. [Epub ahead of print] PMID: 25277063
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. PMID: 24632695
Crisp RL, Solari L, Vota D, García E, Miguez G, Chamorro ME, Schvartzman GA, Alfonso G, Gammella D, Caldarola S, Riccheri C, Vittori D, Venegas B, Nesse A, Donato H
Ann Hematol 2011 Jun;90(6):625-34. Epub 2010 Nov 16 doi: 10.1007/s00277-010-1112-0. [Epub ahead of print] PMID: 21080168
Heruth DP, Hawkins T, Logsdon DP, Gibson MI, Sokolovsky IV, Nsumu NN, Major SL, Fegley B, Woods GM, Lewing KB, Neville KA, Cornetta K, Peterson KR, White RA
Genomics 2010 Nov;96(5):303-7. Epub 2010 Aug 5 doi: 10.1016/j.ygeno.2010.07.009. [Epub ahead of print] PMID: 20691777
Werner B, Lindahl J
Scand J Clin Lab Invest 1980 Jun;40(4):319-24. PMID: 7414250

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