U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Microspherocytosis

MedGen UID:
870826
•Concept ID:
C4025285
•
Disease or Syndrome
HPO: HP:0004835

Definition

The presence of erythrocytes that are sphere-shaped and reduced in size. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrospherocytosis

Conditions with this feature

Pyropoikilocytosis, hereditary
MedGen UID:
141708
•Concept ID:
C0520739
•
Disease or Syndrome
Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008).
See: Condition Record
Pyropoikilocytosis, hereditary

Recent clinical studies

Etiology

The Decline of Open, Laparoscopic, and Robotic Splenectomies: A Single Center Experience.
Tivadar BM, Minciună CE, Coriu D, Coliţă A, Vasilescu C
Chirurgia (Bucur) 2024 Apr;119(2):184-190. doi: 10.21614/chirurgia.2024.v.119.i.2.p.184. PMID: 38743831
Laparoscopic subtotal splenectomy in hereditary spherocytosis : to preserve the upper or the lower pole of the spleen?
Vasilescu C, Stanciulea O, Tudor S, Stanescu D, Colita A, Stoia R, Coriu D, Colita A, Arion C
Surg Endosc 2006 May;20(5):748-52. Epub 2006 Mar 16 doi: 10.1007/s00464-005-0429-6. PMID: 16544076
ABO hemolytic disease of the newborn, without hyperbilirubinemia.
Kaplan E, Herz F, Scheye E
Am J Hematol 1976;1(2):279-82. doi: 10.1002/ajh.2830010212. PMID: 1033665
Reaction of lymphocytes to phytohemagglutinin in vitro in hereditary microspherocytosis.
Polkowska-Kulesza E, Pluźaska A, Judkiewicz L
Pol Med Sci Hist Bull (1973) 1976 Apr-Jun;15(2):221-4. PMID: 959048
Membrane lipid depletion in hyperpermeable red blood cells: its role in the genesis of spherocytes in hereditary spherocytosis.
Jacob HS
J Clin Invest 1967 Dec;46(12):2083-94. doi: 10.1172/JCI105695. PMID: 6074008Free PMC Article

Diagnosis

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.
Khurana M, Edwards D, Rescorla F, Miller C, He Y, Sierra Potchanant E, Nalepa G
Cold Spring Harb Mol Case Stud 2018 Oct;4(5) Epub 2018 Oct 1 doi: 10.1101/mcs.a003152. PMID: 30275003Free PMC Article
Acute intravascular haemolysis with massive microspherocytosis in a 75-year-old woman.
Perseghin P, Epis R, Pastorini A, Camerone G
Recenti Prog Med 1997 Oct;88(10):459-60. PMID: 9401430
HIV-associated autoimmune hemolytic anemia: report of a case and review of the literature.
Telen MJ, Roberts KB, Bartlett JA
J Acquir Immune Defic Syndr (1988) 1990;3(10):933-7. PMID: 2204697
What happens to the microspherocytosis of hereditary spherocytosis in folate deficiency?
Blecher TE
Clin Lab Haematol 1988;10(4):403-8. doi: 10.1111/j.1365-2257.1988.tb01188.x. PMID: 3250788
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis.
Liu SC, Palek J, Prchal J, Castleberry RP
J Clin Invest 1981 Sep;68(3):597-605. doi: 10.1172/jci110293. PMID: 7276161Free PMC Article

Therapy

Inherited haemolytic anaemia created by insertional inactivation of the alpha-spectrin gene.
Grimber G, Galand C, Garbarz M, Mattei MG, Cavard C, Zider A, Blanchet P, Boivin P, Briand P, Dhermy D
Transgenic Res 1992 Nov;1(6):268-74. doi: 10.1007/BF02525168. PMID: 1338695
HIV-associated autoimmune hemolytic anemia: report of a case and review of the literature.
Telen MJ, Roberts KB, Bartlett JA
J Acquir Immune Defic Syndr (1988) 1990;3(10):933-7. PMID: 2204697
What happens to the microspherocytosis of hereditary spherocytosis in folate deficiency?
Blecher TE
Clin Lab Haematol 1988;10(4):403-8. doi: 10.1111/j.1365-2257.1988.tb01188.x. PMID: 3250788

Clinical prediction guides

Acute intravascular haemolysis with massive microspherocytosis in a 75-year-old woman.
Perseghin P, Epis R, Pastorini A, Camerone G
Recenti Prog Med 1997 Oct;88(10):459-60. PMID: 9401430
HIV-associated autoimmune hemolytic anemia: report of a case and review of the literature.
Telen MJ, Roberts KB, Bartlett JA
J Acquir Immune Defic Syndr (1988) 1990;3(10):933-7. PMID: 2204697
Disappearance of microspherocytes in peripheral circulation and normalization of decreased lipids in plasma and in red cells of patients with hereditary spherocytosis after splenectomy.
Sugihara T, Miyashima K, Yawata Y
Am J Hematol 1984 Aug;17(2):129-39. doi: 10.1002/ajh.2830170205. PMID: 6465132
Embolisation of the splenic artery as an alternative to splenectomy for treating hereditary spherocytosis.
Hołowiecki J, Jarczok K, Wawrzynek Z
Folia Haematol Int Mag Klin Morphol Blutforsch 1983;110(6):913-6. PMID: 6200404
Reaction of lymphocytes to phytohemagglutinin in vitro in hereditary microspherocytosis.
Polkowska-Kulesza E, Pluźaska A, Judkiewicz L
Pol Med Sci Hist Bull (1973) 1976 Apr-Jun;15(2):221-4. PMID: 959048

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...