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Decreased hemoglobin concentration

MedGen UID:
1670936
Concept ID:
C4732750
Finding
Synonyms: Decreased haemoglobin concentration; Decreased Hb concentration
 
HPO: HP:0020062

Definition

An abnormal reduction below normal hemoglobin concentration in the circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased hemoglobin concentration

Conditions with this feature

Pyruvate kinase deficiency of red cells
MedGen UID:
473069
Concept ID:
C0340968
Disease or Syndrome
Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005).
Congenital dyserythropoietic anemia type 4
MedGen UID:
462276
Concept ID:
C3150926
Disease or Syndrome
Congenital dyserythropoietic anemia type IV (CDAN4) is an autosomal dominant red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin (summary by Arnaud et al., 2010). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see CDAN1 (224120).
Deeah syndrome
MedGen UID:
1756624
Concept ID:
C5436579
Disease or Syndrome
DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020).
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
MedGen UID:
1776912
Concept ID:
C5436585
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by Schneeberger et al., 2020).

Professional guidelines

PubMed

Shinjo K, Takeshita A, Sahara N, Kobayashi M, Nakamura S, Shigeno K, Naito K, Maekawa M, Ohnishi K, Ohno R
Intern Med 2005 Aug;44(8):818-24. doi: 10.2169/internalmedicine.44.818. PMID: 16157979
Bennekou P, de Franceschi L, Pedersen O, Lian L, Asakura T, Evans G, Brugnara C, Christophersen P
Blood 2001 Mar 1;97(5):1451-7. doi: 10.1182/blood.v97.5.1451. PMID: 11222393

Recent clinical studies

Etiology

Lou Q, Zhang SX, Yuan L
J Int Med Res 2021 Feb;49(2):300060521990244. doi: 10.1177/0300060521990244. PMID: 33530809Free PMC Article
Carvalho Fiel D, Nunes Ficher K, Bernardi Taddeo J, Linhares Silva K, Rosso Felipe C, Aguiar W, Daniel Braz Cardone J, Foresto RD, Tedesco-Silva H Jr, Medina-Pestana J
Transplantation 2021 Jan 1;105(1):249-254. doi: 10.1097/TP.0000000000003227. PMID: 33350627
Parker R, Armstrong MJ, Bruns T, Hodson J, Rowe IA, Corbett CD, Reuken PA, Gunson BK, Houlihan DD, Stephenson B, Malessa C, Lester W, Ferguson JW
Transplantation 2014 Feb 27;97(4):463-9. doi: 10.1097/01.TP.0000437429.12356.03. PMID: 24531823
Tsui AK, Dattani ND, Marsden PA, El-Beheiry MH, Grocott HP, Liu E, Biro GP, Mazer CD, Hare GM
Can J Anaesth 2010 Aug;57(8):779-91. Epub 2010 May 29 doi: 10.1007/s12630-010-9329-x. PMID: 20512540
Shah RC, Wilson RS, Tang Y, Dong X, Murray A, Bennett DA
Neuroepidemiology 2009;32(1):40-6. Epub 2008 Nov 12 doi: 10.1159/000170905. PMID: 19001795Free PMC Article

Diagnosis

Ramallo P, Blanque S, Méndez Uriburu L, Ahualli J, Méndez A, Méndez M
Radiology 2023 Mar;306(3):e213229. doi: 10.1148/radiol.213229. PMID: 36803000
Golse M, Barat M, Costedoat-Chalumeau N, Revel MP
Radiology 2021 Oct;301(1):242-246. doi: 10.1148/radiol.2021203174. PMID: 34543144
Parker R, Armstrong MJ, Bruns T, Hodson J, Rowe IA, Corbett CD, Reuken PA, Gunson BK, Houlihan DD, Stephenson B, Malessa C, Lester W, Ferguson JW
Transplantation 2014 Feb 27;97(4):463-9. doi: 10.1097/01.TP.0000437429.12356.03. PMID: 24531823
Crowley CR, Solomons NW, Schümann K
Adv Nutr 2012 Jul 1;3(4):560-9. doi: 10.3945/an.111.001149. PMID: 22797993Free PMC Article
Shah RC, Wilson RS, Tang Y, Dong X, Murray A, Bennett DA
Neuroepidemiology 2009;32(1):40-6. Epub 2008 Nov 12 doi: 10.1159/000170905. PMID: 19001795Free PMC Article

Therapy

Geisness AC, Azul M, Williams D, Szafraniec H, De Souza DC, Higgins JM, Wood DK
Haematologica 2022 Jun 1;107(6):1438-1447. doi: 10.3324/haematol.2021.278666. PMID: 34706495Free PMC Article
Golse M, Barat M, Costedoat-Chalumeau N, Revel MP
Radiology 2021 Oct;301(1):242-246. doi: 10.1148/radiol.2021203174. PMID: 34543144
Carvalho Fiel D, Nunes Ficher K, Bernardi Taddeo J, Linhares Silva K, Rosso Felipe C, Aguiar W, Daniel Braz Cardone J, Foresto RD, Tedesco-Silva H Jr, Medina-Pestana J
Transplantation 2021 Jan 1;105(1):249-254. doi: 10.1097/TP.0000000000003227. PMID: 33350627
Tsui AK, Dattani ND, Marsden PA, El-Beheiry MH, Grocott HP, Liu E, Biro GP, Mazer CD, Hare GM
Can J Anaesth 2010 Aug;57(8):779-91. Epub 2010 May 29 doi: 10.1007/s12630-010-9329-x. PMID: 20512540
Ballantyne B, Snellings WM
J Appl Toxicol 2007 May-Jun;27(3):291-9. doi: 10.1002/jat.1220. PMID: 17299811

Prognosis

Lou Q, Zhang SX, Yuan L
J Int Med Res 2021 Feb;49(2):300060521990244. doi: 10.1177/0300060521990244. PMID: 33530809Free PMC Article
Parker R, Armstrong MJ, Bruns T, Hodson J, Rowe IA, Corbett CD, Reuken PA, Gunson BK, Houlihan DD, Stephenson B, Malessa C, Lester W, Ferguson JW
Transplantation 2014 Feb 27;97(4):463-9. doi: 10.1097/01.TP.0000437429.12356.03. PMID: 24531823
Chaïbou M, Tucci M, Dugas MA, Farrell CA, Proulx F, Lacroix J
Pediatrics 1998 Oct;102(4 Pt 1):933-8. doi: 10.1542/peds.102.4.933. PMID: 9755268

Clinical prediction guides

Zamarud A, Marianayagam NJ, Park DJ, Yener U, Yoo KH, Meola A, Chang SD
J Neurooncol 2023 Nov;165(2):373-379. Epub 2023 Nov 13 doi: 10.1007/s11060-023-04496-z. PMID: 37955759
Lipowska MM, Dheyongera G, Sadowska ET, Koteja P
Comp Biochem Physiol A Mol Integr Physiol 2019 Aug;234:1-9. Epub 2019 Apr 17 doi: 10.1016/j.cbpa.2019.04.008. PMID: 31004810
Doherty BT, Kwok RK, Curry MD, Ekenga C, Chambers D, Sandler DP, Engel LS
Environ Res 2017 Jul;156:579-587. Epub 2017 Apr 26 doi: 10.1016/j.envres.2017.03.048. PMID: 28448810Free PMC Article
Parker R, Armstrong MJ, Bruns T, Hodson J, Rowe IA, Corbett CD, Reuken PA, Gunson BK, Houlihan DD, Stephenson B, Malessa C, Lester W, Ferguson JW
Transplantation 2014 Feb 27;97(4):463-9. doi: 10.1097/01.TP.0000437429.12356.03. PMID: 24531823
Harusato I, Fukui M, Tanaka M, Shiraishi E, Senmaru T, Sakabe K, Yamazaki M, Hasegawa G, Nakamura N
Metabolism 2010 Jun;59(6):808-13. Epub 2009 Dec 9 doi: 10.1016/j.metabol.2009.09.028. PMID: 20004424

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