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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): Gene(s) directly associated with this condition or phenotype.	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.

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Increased red cell osmotic fragility

MedGen UID:: 376594
•Concept ID:: C1849478
•: Finding

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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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Abnormality of blood and blood-forming tissues
Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
Abnormality of the digestive system
- Cholelithiasis
- Jaundice
Abnormality of the immune system
- Splenomegaly

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary spherocytosis
- CROGVHereditary spherocytosis type 1
- CROGVHereditary spherocytosis type 2
- CROGVHereditary spherocytosis type 3
- CROGVHereditary spherocytosis type 4
- CROGVHereditary spherocytosis type 5

Abnormal erythrocyte morphology
- Anemia
  - Congenital anemia
    - Familial hemolytic anemia
      - Anemia due to membrane defect
        Hereditary spherocytosis
        Hereditary spherocytosis type 1

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: 18116227 Free PMC Article

See all (4)

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

Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.

Wang WJ, Xie JD, Yao H, Ding ZX, Jiang AR, Ma L, Shen HJ, Chen SN
Clin Genet 2023 Jan;103(1):67-78. Epub 2022 Oct 21 doi: 10.1111/cge.14244. PMID: 36203343

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: 34668604 Free 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: 32655575 Free PMC Article

See all (31)

Diagnosis

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

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: 26009624 Free PMC Article

Comparison and evaluation of three screening tests of hereditary spherocytosis in Chinese patients.

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. PMID: 25501660

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, 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

See all (42)

Therapy

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

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: 26613837 Free 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: 26188753 Free 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: 21193012 Free PMC Article

See all (8)

Prognosis

Evaluation of Hepatic Iron Overload Using a Contemporary 0.55 T MRI System.

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: 34481427 Free 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: 26009624 Free PMC Article

See all (14)

Clinical prediction guides

Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.

Wang WJ, Xie JD, Yao H, Ding ZX, Jiang AR, Ma L, Shen HJ, Chen SN
Clin Genet 2023 Jan;103(1):67-78. Epub 2022 Oct 21 doi: 10.1111/cge.14244. PMID: 36203343

Evaluation of Hepatic Iron Overload Using a Contemporary 0.55 T MRI System.

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: 26009624 Free 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

See all (28)