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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.

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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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

Ascertaining genetic carriers of hereditary spherocytosis by statistical analysis of multiple laboratory tests.

MACKINNEY AA Jr, MORTONNE, KOSOWER NS, SCHILLING RF
J Clin Invest 1962 Mar;41(3):554-67. doi: 10.1172/JCI104509. PMID: 14467968 Free PMC Article

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

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

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

Values of mean cell volume and mean sphered cell volume can differentiate hereditary spherocytosis and thalassemia.

Liao L, Deng ZF, Qiu YL, Chen P, Chen WQ, Lin FQ
Hematology 2014 Oct;19(7):393-6. Epub 2014 Jan 20 doi: 10.1179/1607845413Y.0000000149. PMID: 24620949

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

See all (33)

Diagnosis

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

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 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

See all (45)

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: 39079928 Free 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

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

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 (9)

Prognosis

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

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

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

See all (15)

Clinical prediction guides

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

Differentiation between congenital and acquired forms of hemolytic anemia; observations on 47 cases of hereditary spherocytosis and 24 cases of autoimmune hemolytic disease.

YOUNG LE, MILLER G
Am J Med Sci 1953 Dec;226(6):664-73. doi: 10.1097/00000441-195312000-00009. PMID: 13104419

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

See all (28)

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Hereditary spherocytosis type 1(HS; SPH1; HS1)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity