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Increased circulating hemoglobin concentration

MedGen UID:
108199
Concept ID:
C0549448
Finding
Synonyms: Elevated hemoglobin; Increased hemoglobin
SNOMED CT: Increased hemoglobin (131141003); Hemoglobin above reference range (131141003)
 
HPO: HP:0001900

Definition

Concentration of hemoglobin in the blood circulation above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased circulating hemoglobin concentration

Conditions with this feature

Acquired polycythemia vera
MedGen UID:
45996
Concept ID:
C0032463
Neoplastic Process
Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).
Deficiency of bisphosphoglycerate mutase
MedGen UID:
489898
Concept ID:
C1291620
Disease or Syndrome
A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
Chuvash polycythemia
MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).
Erythrocytosis, familial, 3
MedGen UID:
377868
Concept ID:
C1853286
Disease or Syndrome
Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.
Erythrocytosis, familial, 4
MedGen UID:
435867
Concept ID:
C2673187
Disease or Syndrome
Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; 133170). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).
Primary familial polycythemia due to EPO receptor mutation
MedGen UID:
1641215
Concept ID:
C4551637
Disease or Syndrome
Primary familial and congenital polycythemia (PFCP) is characterized by isolated erythrocytosis in an individual with a normal-sized spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations relate to the erythrocytosis and can include plethora, the hyperviscosity syndrome (headache, dizziness, fatigue, lassitude, visual and auditory disturbances, paresthesia, myalgia), altered mental status caused by hypoperfusion and local hypoxia, and arterial and/or venous thromboembolic events. Although the majority of individuals with PFCP have only mild manifestations of hyperviscosity such as dizziness or headache, some affected individuals have had severe and even fatal complications including arterial hypertension, intracerebral hemorrhage, deep vein thrombosis, coronary disease, and myocardial infarction. To date 116 affected individuals from 24 families have been reported.
Erythrocytosis, familial, 5
MedGen UID:
1638941
Concept ID:
C4693552
Disease or Syndrome
Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by Zmajkovic et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).
Erythrocytosis, familial, 6
MedGen UID:
1634191
Concept ID:
C4693822
Disease or Syndrome
Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see 617981) is usually milder than that caused by a beta chain variant.
Erythrocytosis, familial, 7
MedGen UID:
1642594
Concept ID:
C4693823
Disease or Syndrome
Familial erythrocytosis-7 (ECYT7) is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant is usually milder than that caused by a beta chain variant (see 617980).

Professional guidelines

PubMed

Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Daniele G, Campi B, Saba A, Codini S, Ciccarone A, Giusti L, Del Prato S, Esterline RL, Ferrannini E
Front Endocrinol (Lausanne) 2020;11:216. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00216. PMID: 32362872Free PMC Article
Tricco AC, Ivers NM, Grimshaw JM, Moher D, Turner L, Galipeau J, Halperin I, Vachon B, Ramsay T, Manns B, Tonelli M, Shojania K
Lancet 2012 Jun 16;379(9833):2252-61. Epub 2012 Jun 9 doi: 10.1016/S0140-6736(12)60480-2. PMID: 22683130

Recent clinical studies

Etiology

Murphy N, Song M, Papadimitriou N, Carreras-Torres R, Langenberg C, Martin RM, Tsilidis KK, Barroso I, Chen J, Frayling TM, Bull CJ, Vincent EE, Cotterchio M, Gruber SB, Pai RK, Newcomb PA, Perez-Cornago A, van Duijnhoven FJB, Van Guelpen B, Vodicka P, Wolk A, Wu AH, Peters U, Chan AT, Gunter MJ
J Natl Cancer Inst 2022 May 9;114(5):740-752. doi: 10.1093/jnci/djac011. PMID: 35048991Free PMC Article
Roberts SB, Franceschini MA, Silver RE, Taylor SF, de Sa AB, Có R, Sonco A, Krauss A, Taetzsch A, Webb P, Das SK, Chen CY, Rogers BL, Saltzman E, Lin PY, Schlossman N, Pruzensky W, Balé C, Chui KKH, Muentener P
BMJ 2020 Jul 22;370:m2397. doi: 10.1136/bmj.m2397. PMID: 32699176Free PMC Article
Ghanim H, Abuaysheh S, Hejna J, Green K, Batra M, Makdissi A, Chaudhuri A, Dandona P
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa057. PMID: 32044999
Bhasin S, Woodhouse L, Casaburi R, Singh AB, Bhasin D, Berman N, Chen X, Yarasheski KE, Magliano L, Dzekov C, Dzekov J, Bross R, Phillips J, Sinha-Hikim I, Shen R, Storer TW
Am J Physiol Endocrinol Metab 2001 Dec;281(6):E1172-81. doi: 10.1152/ajpendo.2001.281.6.E1172. PMID: 11701431
Bailey DM, Davies B
Br J Sports Med 1997 Sep;31(3):183-90. doi: 10.1136/bjsm.31.3.183. PMID: 9298550Free PMC Article

Diagnosis

Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Bragg F, Trichia E, Aguilar-Ramirez D, Bešević J, Lewington S, Emberson J
BMC Med 2022 May 3;20(1):159. doi: 10.1186/s12916-022-02354-9. PMID: 35501852Free PMC Article
Bellelli A, Tame JRH
Mol Aspects Med 2022 Apr;84:101037. Epub 2021 Sep 30 doi: 10.1016/j.mam.2021.101037. PMID: 34600771
Kataria Y, Wu Y, Horskjær PH, Mandrup-Poulsen T, Ellervik C
Nutrients 2018 May 15;10(5) doi: 10.3390/nu10050621. PMID: 29762515Free PMC Article
Duncker DJ, Bache RJ
Physiol Rev 2008 Jul;88(3):1009-86. doi: 10.1152/physrev.00045.2006. PMID: 18626066

Therapy

Murphy N, Song M, Papadimitriou N, Carreras-Torres R, Langenberg C, Martin RM, Tsilidis KK, Barroso I, Chen J, Frayling TM, Bull CJ, Vincent EE, Cotterchio M, Gruber SB, Pai RK, Newcomb PA, Perez-Cornago A, van Duijnhoven FJB, Van Guelpen B, Vodicka P, Wolk A, Wu AH, Peters U, Chan AT, Gunter MJ
J Natl Cancer Inst 2022 May 9;114(5):740-752. doi: 10.1093/jnci/djac011. PMID: 35048991Free PMC Article
Roberts SB, Franceschini MA, Silver RE, Taylor SF, de Sa AB, Có R, Sonco A, Krauss A, Taetzsch A, Webb P, Das SK, Chen CY, Rogers BL, Saltzman E, Lin PY, Schlossman N, Pruzensky W, Balé C, Chui KKH, Muentener P
BMJ 2020 Jul 22;370:m2397. doi: 10.1136/bmj.m2397. PMID: 32699176Free PMC Article
Ghanim H, Abuaysheh S, Hejna J, Green K, Batra M, Makdissi A, Chaudhuri A, Dandona P
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa057. PMID: 32044999
Bhasin S, Woodhouse L, Casaburi R, Singh AB, Bhasin D, Berman N, Chen X, Yarasheski KE, Magliano L, Dzekov C, Dzekov J, Bross R, Phillips J, Sinha-Hikim I, Shen R, Storer TW
Am J Physiol Endocrinol Metab 2001 Dec;281(6):E1172-81. doi: 10.1152/ajpendo.2001.281.6.E1172. PMID: 11701431
Bailey DM, Davies B
Br J Sports Med 1997 Sep;31(3):183-90. doi: 10.1136/bjsm.31.3.183. PMID: 9298550Free PMC Article

Prognosis

Bragg F, Trichia E, Aguilar-Ramirez D, Bešević J, Lewington S, Emberson J
BMC Med 2022 May 3;20(1):159. doi: 10.1186/s12916-022-02354-9. PMID: 35501852Free PMC Article
Seyed Khoei N, Jenab M, Murphy N, Banbury BL, Carreras-Torres R, Viallon V, Kühn T, Bueno-de-Mesquita B, Aleksandrova K, Cross AJ, Weiderpass E, Stepien M, Bulmer A, Tjønneland A, Boutron-Ruault MC, Severi G, Carbonnel F, Katzke V, Boeing H, Bergmann MM, Trichopoulou A, Karakatsani A, Martimianaki G, Palli D, Tagliabue G, Panico S, Tumino R, Sacerdote C, Skeie G, Merino S, Bonet C, Rodríguez-Barranco M, Gil L, Chirlaque MD, Ardanaz E, Myte R, Hultdin J, Perez-Cornago A, Aune D, Tsilidis KK, Albanes D, Baron JA, Berndt SI, Bézieau S, Brenner H, Campbell PT, Casey G, Chan AT, Chang-Claude J, Chanock SJ, Cotterchio M, Gallinger S, Gruber SB, Haile RW, Hampe J, Hoffmeister M, Hopper JL, Hsu L, Huyghe JR, Jenkins MA, Joshi AD, Kampman E, Larsson SC, Le Marchand L, Li CI, Li L, Lindblom A, Lindor NM, Martín V, Moreno V, Newcomb PA, Offit K, Ogino S, Parfrey PS, Pharoah PDP, Rennert G, Sakoda LC, Schafmayer C, Schmit SL, Schoen RE, Slattery ML, Thibodeau SN, Ulrich CM, van Duijnhoven FJB, Weigl K, Weinstein SJ, White E, Wolk A, Woods MO, Wu AH, Zhang X, Ferrari P, Anton G, Peters A, Peters U, Gunter MJ, Wagner KH, Freisling H
BMC Med 2020 Sep 3;18(1):229. doi: 10.1186/s12916-020-01703-w. PMID: 32878631Free PMC Article
Roberts SB, Franceschini MA, Silver RE, Taylor SF, de Sa AB, Có R, Sonco A, Krauss A, Taetzsch A, Webb P, Das SK, Chen CY, Rogers BL, Saltzman E, Lin PY, Schlossman N, Pruzensky W, Balé C, Chui KKH, Muentener P
BMJ 2020 Jul 22;370:m2397. doi: 10.1136/bmj.m2397. PMID: 32699176Free PMC Article
Ghanim H, Abuaysheh S, Hejna J, Green K, Batra M, Makdissi A, Chaudhuri A, Dandona P
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa057. PMID: 32044999
Xu K, Lamanna JC
J Appl Physiol (1985) 2006 Feb;100(2):725-30. doi: 10.1152/japplphysiol.00940.2005. PMID: 16421279

Clinical prediction guides

Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Bragg F, Trichia E, Aguilar-Ramirez D, Bešević J, Lewington S, Emberson J
BMC Med 2022 May 3;20(1):159. doi: 10.1186/s12916-022-02354-9. PMID: 35501852Free PMC Article
Murphy N, Song M, Papadimitriou N, Carreras-Torres R, Langenberg C, Martin RM, Tsilidis KK, Barroso I, Chen J, Frayling TM, Bull CJ, Vincent EE, Cotterchio M, Gruber SB, Pai RK, Newcomb PA, Perez-Cornago A, van Duijnhoven FJB, Van Guelpen B, Vodicka P, Wolk A, Wu AH, Peters U, Chan AT, Gunter MJ
J Natl Cancer Inst 2022 May 9;114(5):740-752. doi: 10.1093/jnci/djac011. PMID: 35048991Free PMC Article
Roberts SB, Franceschini MA, Silver RE, Taylor SF, de Sa AB, Có R, Sonco A, Krauss A, Taetzsch A, Webb P, Das SK, Chen CY, Rogers BL, Saltzman E, Lin PY, Schlossman N, Pruzensky W, Balé C, Chui KKH, Muentener P
BMJ 2020 Jul 22;370:m2397. doi: 10.1136/bmj.m2397. PMID: 32699176Free PMC Article
Duncker DJ, Bache RJ
Physiol Rev 2008 Jul;88(3):1009-86. doi: 10.1152/physrev.00045.2006. PMID: 18626066

Recent systematic reviews

Quispe-Cornejo AA, Alves da Cunha AL, Njimi H, Mongkolpun W, Valle-Martins AL, Arébalo-López M, Creteur J, Vincent JL
Crit Care 2022 Oct 23;26(1):324. doi: 10.1186/s13054-022-04191-x. PMID: 36274172Free PMC Article
Jain R, Bolch C, Al-Nakkash L, Sweazea KL
Am J Physiol Regul Integr Comp Physiol 2022 Sep 1;323(3):R279-R288. Epub 2022 Jul 11 doi: 10.1152/ajpregu.00236.2021. PMID: 35816719
Yang L, Guo Z, Qi S, Fang T, Zhu H, Santos HO, Khani V, Wong CH, Qiu Z
Complement Ther Med 2020 Aug;52:102505. Epub 2020 Jul 11 doi: 10.1016/j.ctim.2020.102505. PMID: 32951753
McDonald SJ, Middleton P, Dowswell T, Morris PS
Cochrane Database Syst Rev 2013 Jul 11;2013(7):CD004074. doi: 10.1002/14651858.CD004074.pub3. PMID: 23843134Free PMC Article
Tricco AC, Ivers NM, Grimshaw JM, Moher D, Turner L, Galipeau J, Halperin I, Vachon B, Ramsay T, Manns B, Tonelli M, Shojania K
Lancet 2012 Jun 16;379(9833):2252-61. Epub 2012 Jun 9 doi: 10.1016/S0140-6736(12)60480-2. PMID: 22683130

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