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Normocytic anemia

MedGen UID:
39310
Concept ID:
C0085577
Disease or Syndrome
Synonyms: anaemia normocytic; anemia normocytic; Normocytic anaemia; normocytic Anaemia; Normocytic Anemia; normocytic anemia; normocytic Anemia
SNOMED CT: Normocytic anemia (300980002)
 
HPO: HP:0001897
Monarch Initiative: MONDO:0004139

Definition

A kind of anemia in which the volume of the red blood cells is normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNormocytic anemia

Conditions with this feature

HNSHA due to aldolase A deficiency
MedGen UID:
82895
Concept ID:
C0272066
Disease or Syndrome
Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).
Methylcobalamin deficiency type cblE
MedGen UID:
344640
Concept ID:
C1856057
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Triosephosphate isomerase deficiency
MedGen UID:
349893
Concept ID:
C1860808
Disease or Syndrome
Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010).
Hemolytic anemia due to hexokinase deficiency
MedGen UID:
461693
Concept ID:
C3150343
Disease or Syndrome
Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003).
Diamond-Blackfan anemia 13
MedGen UID:
863078
Concept ID:
C4014641
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Immunodeficiency 47
MedGen UID:
934786
Concept ID:
C4310819
Disease or Syndrome
Immunodeficiency-47 (IMD47) is an X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Some patients also have neurologic abnormalities (summary by Jansen et al., 2016).
Shwachman-Diamond syndrome 2
MedGen UID:
1634617
Concept ID:
C4693704
Disease or Syndrome
Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.
Arthrogryposis multiplex congenita 5
MedGen UID:
1731112
Concept ID:
C5436453
Disease or Syndrome
Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017).

Professional guidelines

PubMed

Hufnagel DH, Bos LM, Brown AJ, Prescott LS
J Natl Compr Canc Netw 2024 Mar 15;22(3) doi: 10.6004/jnccn.2023.7108. PMID: 38489926
Sawada K, Hirokawa M, Fujishima N
Hematol Oncol Clin North Am 2009 Apr;23(2):249-59. doi: 10.1016/j.hoc.2009.01.009. PMID: 19327582
Krantz SB
Am J Med Sci 1994 May;307(5):353-9. doi: 10.1097/00000441-199405000-00009. PMID: 8172230

Recent clinical studies

Etiology

Rampon K
FP Essent 2023 Jul;530:12-16. PMID: 37390396
Krečak I, Babić G, Skelin M
Acta Dermatovenerol Croat 2022 Jul;30(1):59-60. PMID: 36153722
Szczepanek-Parulska E, Hernik A, Ruchała M
Pol Arch Intern Med 2017 May 31;127(5):352-360. Epub 2017 Mar 28 doi: 10.20452/pamw.3985. PMID: 28400547
Wang M
Am Fam Physician 2016 Feb 15;93(4):270-8. PMID: 26926814
Janus J, Moerschel SK
Am Fam Physician 2010 Jun 15;81(12):1462-71. PMID: 20540485

Diagnosis

Sommer M
FP Essent 2023 Jul;530:22-33. PMID: 37390398
Kavanagh PL, Fasipe TA, Wun T
JAMA 2022 Jul 5;328(1):57-68. doi: 10.1001/jama.2022.10233. PMID: 35788790
Szczepanek-Parulska E, Hernik A, Ruchała M
Pol Arch Intern Med 2017 May 31;127(5):352-360. Epub 2017 Mar 28 doi: 10.20452/pamw.3985. PMID: 28400547
Wang M
Am Fam Physician 2016 Feb 15;93(4):270-8. PMID: 26926814
Janus J, Moerschel SK
Am Fam Physician 2010 Jun 15;81(12):1462-71. PMID: 20540485

Therapy

Krečak I, Babić G, Skelin M
Acta Dermatovenerol Croat 2022 Jul;30(1):59-60. PMID: 36153722
Kavanagh PL, Fasipe TA, Wun T
JAMA 2022 Jul 5;328(1):57-68. doi: 10.1001/jama.2022.10233. PMID: 35788790
Janus J, Moerschel SK
Am Fam Physician 2010 Jun 15;81(12):1462-71. PMID: 20540485
Irwin JJ, Kirchner JT
Am Fam Physician 2001 Oct 15;64(8):1379-86. PMID: 11681780
Gertz MA, Fonseca R, Rajkumar SV
Oncologist 2000;5(1):63-7. doi: 10.1634/theoncologist.5-1-63. PMID: 10706651

Prognosis

Szczepanek-Parulska E, Hernik A, Ruchała M
Pol Arch Intern Med 2017 May 31;127(5):352-360. Epub 2017 Mar 28 doi: 10.20452/pamw.3985. PMID: 28400547
Gertz M
Leuk Lymphoma 2013 Mar;54(3):464-71. Epub 2012 Aug 25 doi: 10.3109/10428194.2012.717173. PMID: 22860921
Gertz MA
Hematology 2012 Apr;17 Suppl 1:S112-6. doi: 10.1179/102453312X13336169156212. PMID: 22507796
Gertz MA, Fonseca R, Rajkumar SV
Oncologist 2000;5(1):63-7. doi: 10.1634/theoncologist.5-1-63. PMID: 10706651
Krantz SB
Am J Med Sci 1994 May;307(5):353-9. doi: 10.1097/00000441-199405000-00009. PMID: 8172230

Clinical prediction guides

Kavanagh PL, Fasipe TA, Wun T
JAMA 2022 Jul 5;328(1):57-68. doi: 10.1001/jama.2022.10233. PMID: 35788790
Cernaro V, Coppolino G, Visconti L, Rivoli L, Lacquaniti A, Santoro D, Buemi A, Loddo S, Buemi M
Med Res Rev 2019 Mar;39(2):427-460. Epub 2018 Aug 6 doi: 10.1002/med.21527. PMID: 30084153
Migone De Amicis M, Poggiali E, Motta I, Minonzio F, Fabio G, Hu C, Cappellini MD
Intern Emerg Med 2015 Aug;10(5):581-6. Epub 2015 Jan 30 doi: 10.1007/s11739-015-1197-5. PMID: 25633233
Gertz M
Leuk Lymphoma 2013 Mar;54(3):464-71. Epub 2012 Aug 25 doi: 10.3109/10428194.2012.717173. PMID: 22860921
Gertz MA
Hematology 2012 Apr;17 Suppl 1:S112-6. doi: 10.1179/102453312X13336169156212. PMID: 22507796

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