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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

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589
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
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
Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.
Shayakul C, Alper SL
Clin Exp Nephrol 2004 Mar;8(1):1-11. doi: 10.1007/s10157-003-0271-x. PMID: 15067510
Response to Haemophilus influenzae type B conjugate vaccine in children undergoing splenectomy.
Ambrosino DM, Lee MY, Chen D, Shamberger RC
J Pediatr Surg 1992 Aug;27(8):1045-7; discussion 1048. doi: 10.1016/0022-3468(92)90556-m. PMID: 1403533

Diagnosis

A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.
Huang TL, Sang BH, Lei QL, Song CY, Lin YB, Lv Y, Yang CH, Li N, Yang YH, Zhang XW, Tian X
BMC Pediatr 2019 Feb 18;19(1):62. doi: 10.1186/s12887-019-1436-4. PMID: 30777044Free PMC Article
Glycosylated haemoglobin: a false sense of security.
Finan E, Joseph J
BMJ Case Rep 2018 Dec 7;11(1) doi: 10.1136/bcr-2018-227668. PMID: 30567208Free PMC Article
Hemolytic anemia: Part 1.
Sackey K
Pediatr Rev 1999 May;20(5):152-8; quiz 159. doi: 10.1542/pir.20-5-152. PMID: 10233172
HEREDITARY SPHEROCYTOSIS.
KINGERY FA
JAMA 1965 Sep 13;193:954-5. PMID: 14341145
HEREDITARY SPHEROCYTOSIS.
BERGERON DA
Minn Med 1964 Mar;47:311-9. PMID: 14246788

Therapy

Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol.
Glenthøj A, van Beers EJ, van Wijk R, Rab MAE, Groot E, Vejlstrup N, Toft N, Bendtsen SK, Petersen J, Helby J, Chermat F, Fenaux P, Kuo KHM
BMJ Open 2024 Jul 30;14(7):e083691. doi: 10.1136/bmjopen-2023-083691. PMID: 39079928Free PMC Article
Concurrent Cholecystectomy Does Not Increase Splenectomy Morbidity in Patients With Hemolytic Anemia: A Pediatric NSQIP Analysis.
Mack SJ, Pace DJ, Patil S, Cooke-Barber J, Boelig MM, Berman L
J Pediatr Surg 2024 Jan;59(1):117-123. Epub 2023 Sep 21 doi: 10.1016/j.jpedsurg.2023.09.010. PMID: 37833213
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
Hereditary spherocytosis in a patient undergoing coronary artery bypass grafting with cardiopulmonary bypass--a case report.
Spegar J, Riha H, Kotulak T, Vanek T
Perfusion 2015 Jan;30(1):77-81. Epub 2014 Apr 8 doi: 10.1177/0267659114529323. PMID: 24714521

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
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
Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
Nussenzveig RH, Christensen RD, Prchal JT, Yaish HM, Agarwal AM
Neonatology 2014;106(4):355-7. Epub 2014 Oct 1 doi: 10.1159/000365586. PMID: 25277063

Clinical prediction guides

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
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
Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
Nussenzveig RH, Christensen RD, Prchal JT, Yaish HM, Agarwal AM
Neonatology 2014;106(4):355-7. Epub 2014 Oct 1 doi: 10.1159/000365586. PMID: 25277063
Hereditary spherocytosis. II. Observations on the role of the spleen.
YOUNG LE, PLATZER RF, ERVIN DM, IZZO MJ
Blood 1951 Nov;6(11):1099-1113. PMID: 14869369

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