U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Episodic hemolytic anemia

MedGen UID:
347161
Concept ID:
C1859495
Disease or Syndrome; Finding
Synonyms: Episodic hemolysis; Hemolytic anemia, episodic
 
HPO: HP:0004802

Definition

A form of hemolytic anemia that occurs in repeated episodes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpisodic hemolytic anemia

Conditions with this feature

Megaloblastic anemia, folate-responsive
MedGen UID:
440842
Concept ID:
C2749656
Finding
Folate-responsive megaloblastic anemia (MEGAF) is an autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Although serum levels of folate are normal, there is folate deficiency in tissues, including erythrocytes and possibly nerve cells. Serum homocysteine levels are increased and vitamin B12 levels may be decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine (summary by Svaton et al., 2020)
Sitosterolemia 1
MedGen UID:
440869
Concept ID:
C2749759
Disease or Syndrome
Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet.

Professional guidelines

PubMed

Piccin A, Murphy C, Eakins E, Rondinelli MB, Daves M, Vecchiato C, Wolf D, Mc Mahon C, Smith OP
Eur J Haematol 2019 Apr;102(4):319-330. Epub 2019 Feb 21 doi: 10.1111/ejh.13212. PMID: 30664257
Brandow AM, DeBaun MR
Hematol Oncol Clin North Am 2018 Jun;32(3):535-550. doi: 10.1016/j.hoc.2018.01.014. PMID: 29729787Free PMC Article
Yawn BP, Buchanan GR, Afenyi-Annan AN, Ballas SK, Hassell KL, James AH, Jordan L, Lanzkron SM, Lottenberg R, Savage WJ, Tanabe PJ, Ware RE, Murad MH, Goldsmith JC, Ortiz E, Fulwood R, Horton A, John-Sowah J
JAMA 2014 Sep 10;312(10):1033-48. doi: 10.1001/jama.2014.10517. PMID: 25203083

Recent clinical studies

Etiology

Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Sachdev V, Rosing DR, Thein SL
Trends Cardiovasc Med 2021 Apr;31(3):187-193. Epub 2020 Feb 11 doi: 10.1016/j.tcm.2020.02.002. PMID: 32139143Free PMC Article
Youngster I, Arcavi L, Schechmaster R, Akayzen Y, Popliski H, Shimonov J, Beig S, Berkovitch M
Drug Saf 2010 Sep 1;33(9):713-26. doi: 10.2165/11536520-000000000-00000. PMID: 20701405
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601
Perrotta S, Gallagher PG, Mohandas N
Lancet 2008 Oct 18;372(9647):1411-26. doi: 10.1016/S0140-6736(08)61588-3. PMID: 18940465

Diagnosis

Levy JA, Burnett AL, Minniti CP, Ennis W, Vittal A, Heller T, Kleiner D, Thein SL
Hematol Oncol Clin North Am 2022 Dec;36(6):1187-1199. doi: 10.1016/j.hoc.2022.08.001. PMID: 36400538Free PMC Article
Kavanagh PL, Fasipe TA, Wun T
JAMA 2022 Jul 5;328(1):57-68. doi: 10.1001/jama.2022.10233. PMID: 35788790
Sachdev V, Rosing DR, Thein SL
Trends Cardiovasc Med 2021 Apr;31(3):187-193. Epub 2020 Feb 11 doi: 10.1016/j.tcm.2020.02.002. PMID: 32139143Free PMC Article
Rees DC, Williams TN, Gladwin MT
Lancet 2010 Dec 11;376(9757):2018-31. Epub 2010 Dec 3 doi: 10.1016/S0140-6736(10)61029-X. PMID: 21131035
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Therapy

Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Kavanagh PL, Fasipe TA, Wun T
JAMA 2022 Jul 5;328(1):57-68. doi: 10.1001/jama.2022.10233. PMID: 35788790
Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, Foell J, de la Fuente J, Grupp S, Handgretinger R, Ho TW, Kattamis A, Kernytsky A, Lekstrom-Himes J, Li AM, Locatelli F, Mapara MY, de Montalembert M, Rondelli D, Sharma A, Sheth S, Soni S, Steinberg MH, Wall D, Yen A, Corbacioglu S
N Engl J Med 2021 Jan 21;384(3):252-260. Epub 2020 Dec 5 doi: 10.1056/NEJMoa2031054. PMID: 33283989
Piccin A, Murphy C, Eakins E, Rondinelli MB, Daves M, Vecchiato C, Wolf D, Mc Mahon C, Smith OP
Eur J Haematol 2019 Apr;102(4):319-330. Epub 2019 Feb 21 doi: 10.1111/ejh.13212. PMID: 30664257
Rees DC, Williams TN, Gladwin MT
Lancet 2010 Dec 11;376(9757):2018-31. Epub 2010 Dec 3 doi: 10.1016/S0140-6736(10)61029-X. PMID: 21131035

Prognosis

Fakhouri F, Fila M, Hummel A, Ribes D, Sellier-Leclerc AL, Ville S, Pouteil-Noble C, Coindre JP, Le Quintrec M, Rondeau E, Boyer O, Provôt F, Djeddi D, Hanf W, Delmas Y, Louillet F, Lahoche A, Favre G, Châtelet V, Launay EA, Presne C, Zaloszyc A, Caillard S, Bally S, Raimbourg Q, Tricot L, Mousson C, Le Thuaut A, Loirat C, Frémeaux-Bacchi V
Blood 2021 May 6;137(18):2438-2449. doi: 10.1182/blood.2020009280. PMID: 33270832
Sachdev V, Rosing DR, Thein SL
Trends Cardiovasc Med 2021 Apr;31(3):187-193. Epub 2020 Feb 11 doi: 10.1016/j.tcm.2020.02.002. PMID: 32139143Free PMC Article
Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaimé F, Dragon-Durey MA, Ngo S, Moulin B, Servais A, Provot F, Rostaing L, Burtey S, Niaudet P, Deschênes G, Lebranchu Y, Zuber J, Loirat C
Clin J Am Soc Nephrol 2013 Apr;8(4):554-62. Epub 2013 Jan 10 doi: 10.2215/CJN.04760512. PMID: 23307876Free PMC Article
Rees DC, Williams TN, Gladwin MT
Lancet 2010 Dec 11;376(9757):2018-31. Epub 2010 Dec 3 doi: 10.1016/S0140-6736(10)61029-X. PMID: 21131035
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G
Clin J Am Soc Nephrol 2010 Oct;5(10):1844-59. Epub 2010 Jul 1 doi: 10.2215/CJN.02210310. PMID: 20595690Free PMC Article

Clinical prediction guides

Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Kavanagh PL, Fasipe TA, Wun T
JAMA 2022 Jul 5;328(1):57-68. doi: 10.1001/jama.2022.10233. PMID: 35788790
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G
Clin J Am Soc Nephrol 2010 Oct;5(10):1844-59. Epub 2010 Jul 1 doi: 10.2215/CJN.02210310. PMID: 20595690Free PMC Article
Radhakrishnan KM, Chakravarthi S, Pushkala S, Jayaraju J
Indian J Pediatr 2003 Aug;70(8):661-6. doi: 10.1007/BF02724257. PMID: 14510088
Platt OS, Brambilla DJ, Rosse WF, Milner PF, Castro O, Steinberg MH, Klug PP
N Engl J Med 1994 Jun 9;330(23):1639-44. doi: 10.1056/NEJM199406093302303. PMID: 7993409

Recent systematic reviews

Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Suzuki T, Okamoto T, Kawai F, Okuyama S, Fukuda K
Intern Med 2022 Feb 15;61(4):481-488. Epub 2021 Aug 24 doi: 10.2169/internalmedicine.7690-21. PMID: 34433718Free PMC Article
Oniyangi O, Cohall DH
Cochrane Database Syst Rev 2018 Feb 15;2(2):CD004448. doi: 10.1002/14651858.CD004448.pub6. PMID: 29446825Free PMC Article
Nevitt SJ, Jones AP, Howard J
Cochrane Database Syst Rev 2017 Apr 20;4(4):CD002202. doi: 10.1002/14651858.CD002202.pub2. PMID: 28426137Free PMC Article
Oniyangi O, Cohall DH
Cochrane Database Syst Rev 2015 Apr 6;(4):CD004448. doi: 10.1002/14651858.CD004448.pub5. PMID: 25844571

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...