U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane

MedGen UID:
349245
•Concept ID:
C1859786
•
Disease or Syndrome
Synonym: Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane
 
Monarch Initiative: MONDO:0008789
OMIM®: 206300

Clinical features

From HPO
Nonspherocytic hemolytic anemia
MedGen UID:
871250
•Concept ID:
C4025735
•
Disease or Syndrome
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
Show allHide all

Recent clinical studies

Etiology

Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: the first report from India.
Warang P, Nair S, Nadkarni A, Kedar P, Bhave A, Ghosh K, Colah R
Hematology 2014 Jun;19(4):199-201. Epub 2013 Nov 25 doi: 10.1179/1607845413Y.0000000116. PMID: 24074398
Oxidant damage to erythrocyte membrane in glucose-6-phosphate dehydrogenase deficiency: correlation with in vivo reduced glutathione concentration and membrane protein oxidation.
Johnson RM, Ravindranath Y, ElAlfy MS, Goyette G Jr
Blood 1994 Feb 15;83(4):1117-23. PMID: 8111051
A new mutant erythrocyte glucosephosphate isomerase (GPI) associated with GSH abnormality.
Zanella A, Rebulla P, Izzo C, Zanuso F, Kahane I, Molinari E, Sirchia G
Am J Hematol 1978;5(1):11-23. doi: 10.1002/ajh.2830050103. PMID: 747179

Diagnosis

Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.
Andres O, Loewecke F, Morbach H, Kraus S, Einsele H, Eber S, Speer CP
Br J Haematol 2019 Nov;187(3):386-395. Epub 2019 Jul 5 doi: 10.1111/bjh.16084. PMID: 31273765
Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.
Koralkova P, van Solinge WW, van Wijk R
Int J Lab Hematol 2014 Jun;36(3):388-97. doi: 10.1111/ijlh.12223. PMID: 24750686
Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: the first report from India.
Warang P, Nair S, Nadkarni A, Kedar P, Bhave A, Ghosh K, Colah R
Hematology 2014 Jun;19(4):199-201. Epub 2013 Nov 25 doi: 10.1179/1607845413Y.0000000116. PMID: 24074398
Red cell membrane Na+ transport systems in hereditary spherocytosis: relevance to understanding the increased Na+ permeability.
Vives Corrons JL, Besson I
Ann Hematol 2001 Sep;80(9):535-9. doi: 10.1007/s002770100342. PMID: 11669303
Red blood cell associated IgG in normal and pathologic states.
Szymanski IO, Odgren PR, Fortier NL, Snyder LM
Blood 1980 Jan;55(1):48-54. PMID: 7350941

Therapy

Red cell pyruvate kinase deficiency: molecular and clinical aspects.
Zanella A, Fermo E, Bianchi P, Valentini G
Br J Haematol 2005 Jul;130(1):11-25. doi: 10.1111/j.1365-2141.2005.05527.x. PMID: 15982340

Clinical prediction guides

Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.
Andres O, Loewecke F, Morbach H, Kraus S, Einsele H, Eber S, Speer CP
Br J Haematol 2019 Nov;187(3):386-395. Epub 2019 Jul 5 doi: 10.1111/bjh.16084. PMID: 31273765
Red cell pyruvate kinase deficiency: molecular and clinical aspects.
Zanella A, Fermo E, Bianchi P, Valentini G
Br J Haematol 2005 Jul;130(1):11-25. doi: 10.1111/j.1365-2141.2005.05527.x. PMID: 15982340
Oxidant damage to erythrocyte membrane in glucose-6-phosphate dehydrogenase deficiency: correlation with in vivo reduced glutathione concentration and membrane protein oxidation.
Johnson RM, Ravindranath Y, ElAlfy MS, Goyette G Jr
Blood 1994 Feb 15;83(4):1117-23. PMID: 8111051
Red blood cell associated IgG in normal and pathologic states.
Szymanski IO, Odgren PR, Fortier NL, Snyder LM
Blood 1980 Jan;55(1):48-54. PMID: 7350941

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Research)
      Research tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      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...