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HbC hemoglobin

MedGen UID:
1688191
Concept ID:
C4759912
Finding
Synonyms: Haemoglobin C; HbC haemoglobin; Hemoglobin C
 
HPO: HP:0032146

Definition

Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHbC hemoglobin

Professional guidelines

PubMed

Serjeant GR, Serjeant BE, Mason KP, Gibson F, Gardner RA, Warren L, Hambleton IR, Thein SL, Happich M, Kulozik AE
J Med Screen 2022 Dec;29(4):219-223. Epub 2022 Aug 8 doi: 10.1177/09691413221111209. PMID: 35934992
Hashmi G, Qidwai A, Fernandez K, Seul M
BMC Med Genet 2020 May 15;21(1):108. doi: 10.1186/s12881-020-01017-x. PMID: 32414341Free PMC Article
Kohne E
Dtsch Arztebl Int 2011 Aug;108(31-32):532-40. Epub 2011 Aug 8 doi: 10.3238/arztebl.2011.0532. PMID: 21886666Free PMC Article

Recent clinical studies

Etiology

Suner S, Rayner J, Ozturan IU, Hogan G, Meehan CP, Chambers AB, Baird J, Jay GD
PLoS One 2021;16(7):e0253495. Epub 2021 Jul 14 doi: 10.1371/journal.pone.0253495. PMID: 34260592Free PMC Article
Taylor SM, Fairhurst RM
Curr Opin Hematol 2014 May;21(3):193-200. doi: 10.1097/MOH.0000000000000039. PMID: 24675047Free PMC Article
Taylor SM, Cerami C, Fairhurst RM
PLoS Pathog 2013;9(5):e1003327. Epub 2013 May 16 doi: 10.1371/journal.ppat.1003327. PMID: 23696730Free PMC Article
Kohne E
Dtsch Arztebl Int 2011 Aug;108(31-32):532-40. Epub 2011 Aug 8 doi: 10.3238/arztebl.2011.0532. PMID: 21886666Free PMC Article
López C, Saravia C, Gomez A, Hoebeke J, Patarroyo MA
Gene 2010 Nov 1;467(1-2):1-12. Epub 2010 Jul 22 doi: 10.1016/j.gene.2010.07.008. PMID: 20655368

Diagnosis

Serjeant GR, Serjeant BE, Mason KP, Gibson F, Gardner RA, Warren L, Hambleton IR, Thein SL, Happich M, Kulozik AE
J Med Screen 2022 Dec;29(4):219-223. Epub 2022 Aug 8 doi: 10.1177/09691413221111209. PMID: 35934992
Suner S, Rayner J, Ozturan IU, Hogan G, Meehan CP, Chambers AB, Baird J, Jay GD
PLoS One 2021;16(7):e0253495. Epub 2021 Jul 14 doi: 10.1371/journal.pone.0253495. PMID: 34260592Free PMC Article
Harp KO, Botchway F, Dei-Adomakoh Y, Wilson MD, Hood JL, Adjei AA, Stiles JK, Driss A
Front Immunol 2020;11:593546. Epub 2020 Dec 23 doi: 10.3389/fimmu.2020.593546. PMID: 33424841Free PMC Article
Kohne E
Dtsch Arztebl Int 2011 Aug;108(31-32):532-40. Epub 2011 Aug 8 doi: 10.3238/arztebl.2011.0532. PMID: 21886666Free PMC Article
Basset P, Braconnier F, Rosa J
J Chromatogr 1982 Feb 12;227(2):267-304. doi: 10.1016/s0378-4347(00)80384-9. PMID: 7037806

Therapy

Ghunney WK, Asare EV, Ayete-Nyampong JB, Oppong SA, Rodeghier M, DeBaun MR, Olayemi E
Blood Adv 2023 Jul 11;7(13):3312-3319. doi: 10.1182/bloodadvances.2022009049. PMID: 36799926Free PMC Article
Niwaha AJ, Rodgers LR, Greiner R, Balungi PA, Mwebaze R, McDonald TJ, Hattersley AT, Shields BM, Nyirenda MJ, Jones AG
BMJ Open Diabetes Res Care 2021 Sep;9(1) doi: 10.1136/bmjdrc-2021-002350. PMID: 34535465Free PMC Article
Rutherford-Parker NJ, Campbell ST, Colby JM, Shajani-Yi Z
Am J Clin Pathol 2020 Oct 13;154(5):627-634. doi: 10.1093/ajcp/aqaa067. PMID: 32561909
Kohne E
Dtsch Arztebl Int 2011 Aug;108(31-32):532-40. Epub 2011 Aug 8 doi: 10.3238/arztebl.2011.0532. PMID: 21886666Free PMC Article
Brugnara C, Zelmanovic D, Sorette M, Ballas SK, Platt O
Am J Clin Pathol 1997 Aug;108(2):133-42. doi: 10.1093/ajcp/108.2.133. PMID: 9260753

Prognosis

Serjeant GR, Serjeant BE, Mason KP, Gibson F, Gardner RA, Warren L, Hambleton IR, Thein SL, Happich M, Kulozik AE
J Med Screen 2022 Dec;29(4):219-223. Epub 2022 Aug 8 doi: 10.1177/09691413221111209. PMID: 35934992
Thiam F, Diop G, Coulonges C, Derbois C, Mbengue B, Thiam A, Nguer CM, Zagury JF, Deleuze JF, Dieye A
PeerJ 2022;10:e13487. Epub 2022 Jul 5 doi: 10.7717/peerj.13487. PMID: 35811813Free PMC Article
Suner S, Rayner J, Ozturan IU, Hogan G, Meehan CP, Chambers AB, Baird J, Jay GD
PLoS One 2021;16(7):e0253495. Epub 2021 Jul 14 doi: 10.1371/journal.pone.0253495. PMID: 34260592Free PMC Article
Harp KO, Botchway F, Dei-Adomakoh Y, Wilson MD, Hood JL, Adjei AA, Stiles JK, Driss A
Front Immunol 2020;11:593546. Epub 2020 Dec 23 doi: 10.3389/fimmu.2020.593546. PMID: 33424841Free PMC Article
Di Meglio L, Derraz I, Solonomenjanahary M, Daly D, Chodraui Filho S, Ben Maacha M, Labreuche J, Desal H, Consoli A, Lapergue B, Blanc R, Piotin M, Mazighi M, Ho-Tin-Noé B, Desilles JP, Bourcier R; compoCLOT Research Investigators group
Eur J Neurol 2020 Jul;27(7):1264-1271. Epub 2020 May 3 doi: 10.1111/ene.14241. PMID: 32243692

Clinical prediction guides

Suner S, Rayner J, Ozturan IU, Hogan G, Meehan CP, Chambers AB, Baird J, Jay GD
PLoS One 2021;16(7):e0253495. Epub 2021 Jul 14 doi: 10.1371/journal.pone.0253495. PMID: 34260592Free PMC Article
Harp KO, Botchway F, Dei-Adomakoh Y, Wilson MD, Hood JL, Adjei AA, Stiles JK, Driss A
Front Immunol 2020;11:593546. Epub 2020 Dec 23 doi: 10.3389/fimmu.2020.593546. PMID: 33424841Free PMC Article
Di Meglio L, Derraz I, Solonomenjanahary M, Daly D, Chodraui Filho S, Ben Maacha M, Labreuche J, Desal H, Consoli A, Lapergue B, Blanc R, Piotin M, Mazighi M, Ho-Tin-Noé B, Desilles JP, Bourcier R; compoCLOT Research Investigators group
Eur J Neurol 2020 Jul;27(7):1264-1271. Epub 2020 May 3 doi: 10.1111/ene.14241. PMID: 32243692
López C, Saravia C, Gomez A, Hoebeke J, Patarroyo MA
Gene 2010 Nov 1;467(1-2):1-12. Epub 2010 Jul 22 doi: 10.1016/j.gene.2010.07.008. PMID: 20655368
Zago MA, Costa FF
Trans R Soc Trop Med Hyg 1985;79(3):385-8. doi: 10.1016/0035-9203(85)90389-x. PMID: 3898485

Recent systematic reviews

Okoh MP, Alli LA, Tolvanen MEE, Nwegbu MM
Curr Drug Discov Technol 2019;16(4):372-385. doi: 10.2174/1570163815666181002101611. PMID: 30277160

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