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Hereditary spherocytosis type 1(HS; SPH1; HS1)

MedGen UID:
382302
•Concept ID:
C2674218
•
Disease or Syndrome
Synonyms: ANK1-Related Hereditary Spherocytosis; ANK1-Related Spherocytosis; Spherocytosis type 1
 
Gene (location): ANK1 (8p11.21)
 
Monarch Initiative: MONDO:0008447
OMIM®: 182900

Definition

Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene. [from MONDO]

Clinical features

From HPO
Cholelithiasis
MedGen UID:
3039
•Concept ID:
C0008350
•
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Hemolytic anemia
MedGen UID:
1916
•Concept ID:
C0002878
•
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
See: Feature record | Search on this feature
Reticulocytosis
MedGen UID:
60089
•Concept ID:
C0206160
•
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
See: Feature record | Search on this feature
Spherocytosis
MedGen UID:
154301
•Concept ID:
C0553720
•
Finding
The presence of erythrocytes that are sphere-shaped.
See: Feature record | Search on this feature
Increased red cell osmotic fragility
MedGen UID:
376594
•Concept ID:
C1849478
•
Finding
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Hyperbilirubinemia
MedGen UID:
86321
•Concept ID:
C0311468
•
Finding
An increased amount of bilirubin in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis.
Danise P, Amendola G, Nobili B, Perrotta S, Miraglia Del Giudice E, Matarese SM, Iolascon A, Brugnara C
Clin Lab Haematol 2001 Feb;23(1):7-13. doi: 10.1046/j.1365-2257.2001.00354.x. PMID: 11422224
Hereditary spherocytosis in the neonatal period: diagnosis, incidence, and treatment.
SHAPIRO CM, JOSEPHSON AM, ROZENGVAIG S, KAUFFMAN A
J Pediatr 1957 Mar;50(3):308-14. doi: 10.1016/s0022-3476(57)80028-6. PMID: 13406684
Hemolytic anemias recent advances in diagnosis and treatment.
EVANS RS, DUANE R
Calif Med 1949 Apr;70(4):244-51. PMID: 18116227Free PMC Article

Recent clinical studies

Etiology

Evaluation of Hepatic Iron Overload Using a Contemporary 0.55 T MRI System.
Campbell-Washburn AE, Mancini C, Conrey A, Edwards L, Shanbhag S, Wood J, Xue H, Kellman P, Bandettini WP, Thein SL
J Magn Reson Imaging 2022 Jun;55(6):1855-1863. Epub 2021 Oct 20 doi: 10.1002/jmri.27950. PMID: 34668604Free PMC Article
Eosinophilic cholecystitis in children: Case series.
Garzón G LN, Jaramillo B LE, Valero H JJ, Quintero C EM
J Pediatr Surg 2021 Mar;56(3):550-552. Epub 2020 Jun 3 doi: 10.1016/j.jpedsurg.2020.05.039. PMID: 32624207
Congenital Hemolytic Anemias: Is There a Role for the Immune System?
Zaninoni A, Fermo E, Vercellati C, Marcello AP, Barcellini W, Bianchi P
Front Immunol 2020;11:1309. Epub 2020 Jun 23 doi: 10.3389/fimmu.2020.01309. PMID: 32655575Free PMC Article
Hereditary spherocytosis in children: profile and post-splenectomy outcome.
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. doi: 10.1007/s13312-014-0348-5. PMID: 24632695
Splenectomy in hereditary spherocytosis: Review of 1,657 patients and application of the pediatric quality indicators.
Abdullah F, Zhang Y, Camp M, Rossberg MI, Bathurst MA, Colombani PM, Casella JF, Nabaweesi R, Chang DC
Pediatr Blood Cancer 2009 Jul;52(7):834-7. doi: 10.1002/pbc.21954. PMID: 19214973

Diagnosis

A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates.
Christensen RD, Yaish HM, Gallagher PG
Pediatrics 2015 Jun;135(6):1107-14. doi: 10.1542/peds.2014-3516. PMID: 26009624Free PMC Article
Hereditary spherocytosis in children: profile and post-splenectomy outcome.
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. doi: 10.1007/s13312-014-0348-5. PMID: 24632695
Hereditary spherocytosis and wandering spleen.
Polat A, Ozgurler F, Balcı YI, Kocyigit A, Tan M
Pediatr Hematol Oncol 2014 Feb;31(1):101-3. Epub 2013 Oct 2 doi: 10.3109/08880018.2013.831150. PMID: 24088174
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
Da Costa L, Galimand J, Fenneteau O, Mohandas N
Blood Rev 2013 Jul;27(4):167-78. Epub 2013 May 9 doi: 10.1016/j.blre.2013.04.003. PMID: 23664421
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

Therapy

Acute human parvovirus B19 infection triggers immune-mediated transient bone marrow failure syndrome, extreme direct hyperbilirubinaemia and acute hepatitis in patients with hereditary haemolytic anaemias: multicentre prospective pathophysiological study.
Elbadry MI, Khaled SAA, Ahmed NM, Abudeif A, Abdelkareem RM, Ezeldin M, Tawfeek A
Br J Haematol 2021 May;193(4):827-840. Epub 2021 Apr 25 doi: 10.1111/bjh.17484. PMID: 33899219
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia.
Englum BR, Rothman J, Leonard S, Reiter A, Thornburg C, Brindle M, Wright N, Heeney MM, Jason Smithers C, Brown RL, Kalfa T, Langer JC, Cada M, Oldham KT, Scott JP, St Peter SD, Sharma M, Davidoff AM, Nottage K, Bernabe K, Wilson DB, Dutta S, Glader B, Crary SE, Dassinger MS, Dunbar L, Islam S, Kumar M, Rescorla F, Bruch S, Campbell A, Austin M, Sidonio R, Blakely ML, Rice HE; Splenectomy in Congenital Hemolytic Anemia Consortium
J Pediatr Surg 2016 Jan;51(1):122-7. Epub 2015 Oct 23 doi: 10.1016/j.jpedsurg.2015.10.028. PMID: 26613837Free PMC Article
Surgical drain after open or laparoscopic splenectomy: is it needed or contraindicated?
Vecchio R, Intagliata E, Marchese S, Battaglia S, Cacciola RR, Cacciola E
G Chir 2015 May-Jun;36(3):101-5. PMID: 26188753Free PMC Article
A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis.
Hughes MR, Anderson N, Maltby S, Wong J, Berberovic Z, Birkenmeier CS, Haddon DJ, Garcha K, Flenniken A, Osborne LR, Adamson SL, Rossant J, Peters LL, Minden MD, Paulson RF, Wang C, Barber DL, McNagny KM, Stanford WL
Exp Hematol 2011 Mar;39(3):305-20, 320.e1-2. Epub 2010 Dec 28 doi: 10.1016/j.exphem.2010.12.009. PMID: 21193012Free PMC Article
Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter.
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. PMID: 20479128Free PMC Article

Prognosis

Evaluation of Hepatic Iron Overload Using a Contemporary 0.55 T MRI System.
Campbell-Washburn AE, Mancini C, Conrey A, Edwards L, Shanbhag S, Wood J, Xue H, Kellman P, Bandettini WP, Thein SL
J Magn Reson Imaging 2022 Jun;55(6):1855-1863. Epub 2021 Oct 20 doi: 10.1002/jmri.27950. PMID: 34668604Free PMC Article
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis.
Shahab-Movahed Z, Majd A, Siasi Torbati E, Zeinali S
Iran Biomed J 2021 Sep 1;25(5):359-67. doi: 10.52547/ibj.25.5.359. [Epub ahead of print] PMID: 34481427Free PMC Article
Eosinophilic cholecystitis in children: Case series.
Garzón G LN, Jaramillo B LE, Valero H JJ, Quintero C EM
J Pediatr Surg 2021 Mar;56(3):550-552. Epub 2020 Jun 3 doi: 10.1016/j.jpedsurg.2020.05.039. PMID: 32624207
Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates.
Christensen RD, Yaish HM, Gallagher PG
Pediatrics 2015 Jun;135(6):1107-14. doi: 10.1542/peds.2014-3516. PMID: 26009624Free PMC Article

Clinical prediction guides

Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis.
Shahab-Movahed Z, Majd A, Siasi Torbati E, Zeinali S
Iran Biomed J 2021 Sep 1;25(5):359-67. doi: 10.52547/ibj.25.5.359. [Epub ahead of print] PMID: 34481427Free PMC Article
Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates.
Christensen RD, Yaish HM, Gallagher PG
Pediatrics 2015 Jun;135(6):1107-14. doi: 10.1542/peds.2014-3516. PMID: 26009624Free PMC Article
Hereditary spherocytosis in children: profile and post-splenectomy outcome.
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. doi: 10.1007/s13312-014-0348-5. PMID: 24632695
Splenectomy in hereditary spherocytosis: Review of 1,657 patients and application of the pediatric quality indicators.
Abdullah F, Zhang Y, Camp M, Rossberg MI, Bathurst MA, Colombani PM, Casella JF, Nabaweesi R, Chang DC
Pediatr Blood Cancer 2009 Jul;52(7):834-7. doi: 10.1002/pbc.21954. PMID: 19214973

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