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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 substitution 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

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
Siqueira WC, Figueiredo MS, Cruz AA, Costa FF, Zago MA
Acta Ophthalmol (Copenh) 1990 Oct;68(5):515-8. doi: 10.1111/j.1755-3768.1990.tb04779.x. PMID: 2275343
Ewing N, Powars D, Hilburn J, Schroeder WA
Am J Public Health 1981 Jun;71(6):629-31. doi: 10.2105/ajph.71.6.629. PMID: 7235101Free PMC Article

Recent clinical studies

Etiology

Jacobs JW, Sharma D, Stephens LD, Figueroa Villalba CA, Rinder HM, Woo JS, Wheeler AP, Gerberi D, Goel R, Tormey CA, Booth GS, Bloch EM, Adkins BD
Br J Haematol 2024 Apr;204(4):1500-1506. Epub 2024 Jan 30 doi: 10.1111/bjh.19313. PMID: 38291731
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
Timmann C, Evans JA, König IR, Kleensang A, Rüschendorf F, Lenzen J, Sievertsen J, Becker C, Enuameh Y, Kwakye KO, Opoku E, Browne EN, Ziegler A, Nürnberg P, Horstmann RD
PLoS Genet 2007 Mar 23;3(3):e48. doi: 10.1371/journal.pgen.0030048. PMID: 17381244Free PMC Article
Mach-Pascual S, Darbellay R, Pilotto PA, Beris P
Eur J Haematol 1996 Jul;57(1):54-61. doi: 10.1111/j.1600-0609.1996.tb00490.x. PMID: 8698132
Nagel RL
Blood Cells 1990;16(2-3):321-39; discussion 340-9. PMID: 2257317

Diagnosis

Garrell-Salat X, Garcia-Arumi C, Bertolani Y, García SB, Buck P, Garcia-Arumi J
Turk J Ophthalmol 2023 Oct 19;53(5):318-321. doi: 10.4274/tjo.galenos.2023.48672. PMID: 37870045Free PMC Article
Sharma S, Sharma G, Chandra J, Colah R
Indian J Pathol Microbiol 2016 Jan-Mar;59(1):99-101. doi: 10.4103/0377-4929.174844. PMID: 26960650
Silva WS, de Oliveira RF, Ribeiro SB, da Silva IB, de Araújo EM, Baptista AF
Int J Environ Res Public Health 2016 Feb 18;13(2):225. doi: 10.3390/ijerph13020225. PMID: 26901212Free 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
Gulbis B, Fontaine B, Vertongen F, Cotton F
Ann Clin Biochem 2003 Nov;40(Pt 6):659-62. doi: 10.1258/000456303770367261. PMID: 14629805

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
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
Chies JA, Dresch C, Cruz MS, da Silva G, Barros E, Bittar C, Friedrisch J, Silla LM
Med Hypotheses 2005;64(1):174-6. doi: 10.1016/j.mehy.2004.05.004. PMID: 15533637
Reinhardt MC
Helv Paediatr Acta Suppl 1978 Dec;(41):43-63. PMID: 215575

Prognosis

Hannemann A, Rees DC, Tewari S, Gibson JS
EBioMedicine 2015 Nov;2(11):1669-76. Epub 2015 Sep 18 doi: 10.1016/j.ebiom.2015.09.026. PMID: 26870793Free PMC Article
Thoma J, Kutter D, Casel S, Rosoux P, Braas C, Ries F, Groff P, Kalmes G, Golinska B
Acta Clin Belg 2005 Nov-Dec;60(6):377-82. doi: 10.1179/acb.2005.057. PMID: 16502600
Guinet F, Diallo DA, Minta D, Dicko A, Sissoko MS, Keita MM, Wellems TE, Doumbo O
Acta Trop 1997 Nov;68(2):175-82. doi: 10.1016/s0001-706x(97)00089-2. PMID: 9386792
Hirsch RE, Rybicki AC, Fataliev NA, Lin MJ, Friedman JM, Nagel RL
Br J Haematol 1997 Sep;98(3):583-8. doi: 10.1046/j.1365-2141.1997.2483062.x. PMID: 9332311
Liu CY, Udden MM, Hellums JD
Microvasc Res 1995 Jan;49(1):78-96. doi: 10.1006/mvre.1995.1007. PMID: 7746165

Clinical prediction guides

Yang E, Voelkel EB, Lezon-Geyda K, Schulz VP, Gallagher PG
Pediatr Blood Cancer 2017 Aug;64(8) Epub 2017 Jan 25 doi: 10.1002/pbc.26444. PMID: 28121068Free PMC Article
Sharma S, Sharma G, Chandra J, Colah R
Indian J Pathol Microbiol 2016 Jan-Mar;59(1):99-101. doi: 10.4103/0377-4929.174844. PMID: 26960650
Bhattacharya J, Choudhuri U, Siwach O, Sen P, Dasgupta AK
Nanomedicine 2006 Sep;2(3):191-9. doi: 10.1016/j.nano.2006.07.001. PMID: 17292142
Nagel RL
Blood Cells 1990;16(2-3):321-39; discussion 340-9. PMID: 2257317
Steinberg MH
Br J Haematol 1975 Jul;30(3):337-42. doi: 10.1111/j.1365-2141.1975.tb00549.x. PMID: 1201216

Recent systematic reviews

Jacobs JW, Sharma D, Stephens LD, Figueroa Villalba CA, Rinder HM, Woo JS, Wheeler AP, Gerberi D, Goel R, Tormey CA, Booth GS, Bloch EM, Adkins BD
Br J Haematol 2024 Apr;204(4):1500-1506. Epub 2024 Jan 30 doi: 10.1111/bjh.19313. PMID: 38291731
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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