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HbS hemoglobin

MedGen UID:
924209
Concept ID:
C4282073
Finding
Synonym: HbS haemoglobin
 
HPO: HP:0045047

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 valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. [from HPO]

Term Hierarchy

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

Professional guidelines

PubMed

Brown C, Tonda M, Abboud MR
Expert Rev Hematol 2022 Jun;15(6):485-492. Epub 2022 Jun 7 doi: 10.1080/17474086.2022.2082408. PMID: 35671094
Meier ER
Pediatr Clin North Am 2018 Jun;65(3):427-443. doi: 10.1016/j.pcl.2018.01.005. PMID: 29803275
Glassberg J
Emerg Med Pract 2011 Aug;13(8):1-20; quiz 20. PMID: 22164362

Recent clinical studies

Etiology

Merlet AN, Chatel B, Hourdé C, Ravelojaona M, Bendahan D, Féasson L, Messonnier LA
Med Sci Sports Exerc 2019 Jan;51(1):4-11. doi: 10.1249/MSS.0000000000001757. PMID: 30095751
Belini Junior E, Silva DG, Torres Lde S, Okumura JV, Lobo CL, Bonini-Domingos CR
Blood Cells Mol Dis 2015 Apr;54(4):321-7. Epub 2015 Feb 23 doi: 10.1016/j.bcmd.2015.01.011. PMID: 25842370
Griessenauer CJ, Lebensburger JD, Chua MH, Fisher WS 3rd, Hilliard L, Bemrich-Stolz CJ, Howard TH, Johnston JM
J Neurosurg Pediatr 2015 Jul;16(1):64-73. Epub 2015 Apr 3 doi: 10.3171/2014.12.PEDS14522. PMID: 25837886
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

Diagnosis

Toutain J, Fares S, Cochereau I, Gargouri MA, Titah C
Ocul Immunol Inflamm 2024 Aug;32(6):1079-1082. Epub 2022 Nov 28 doi: 10.1080/09273948.2022.2147545. PMID: 36442016
Belini Junior E, Silva DG, Torres Lde S, Okumura JV, Lobo CL, Bonini-Domingos CR
Blood Cells Mol Dis 2015 Apr;54(4):321-7. Epub 2015 Feb 23 doi: 10.1016/j.bcmd.2015.01.011. PMID: 25842370
Griessenauer CJ, Lebensburger JD, Chua MH, Fisher WS 3rd, Hilliard L, Bemrich-Stolz CJ, Howard TH, Johnston JM
J Neurosurg Pediatr 2015 Jul;16(1):64-73. Epub 2015 Apr 3 doi: 10.3171/2014.12.PEDS14522. PMID: 25837886
Sen U, Dasgupta J, Choudhury D, Datta P, Chakrabarti A, Chakrabarty SB, Chakrabarty A, Dattagupta JK
Biochemistry 2004 Oct 5;43(39):12477-88. doi: 10.1021/bi048903i. PMID: 15449937
Voskaridou E, Konstantopoulos K, Kollia P, Papadakis M, Loukopoulos D
Am J Hematol 1995 Jun;49(2):131-4. doi: 10.1002/ajh.2830490206. PMID: 7771464

Therapy

Toutain J, Fares S, Cochereau I, Gargouri MA, Titah C
Ocul Immunol Inflamm 2024 Aug;32(6):1079-1082. Epub 2022 Nov 28 doi: 10.1080/09273948.2022.2147545. PMID: 36442016
Merlet AN, Chatel B, Hourdé C, Ravelojaona M, Bendahan D, Féasson L, Messonnier LA
Med Sci Sports Exerc 2019 Jan;51(1):4-11. doi: 10.1249/MSS.0000000000001757. PMID: 30095751
Belini Junior E, Silva DG, Torres Lde S, Okumura JV, Lobo CL, Bonini-Domingos CR
Blood Cells Mol Dis 2015 Apr;54(4):321-7. Epub 2015 Feb 23 doi: 10.1016/j.bcmd.2015.01.011. PMID: 25842370
Griessenauer CJ, Lebensburger JD, Chua MH, Fisher WS 3rd, Hilliard L, Bemrich-Stolz CJ, Howard TH, Johnston JM
J Neurosurg Pediatr 2015 Jul;16(1):64-73. Epub 2015 Apr 3 doi: 10.3171/2014.12.PEDS14522. PMID: 25837886

Prognosis

Belini Junior E, Silva DG, Torres Lde S, Okumura JV, Lobo CL, Bonini-Domingos CR
Blood Cells Mol Dis 2015 Apr;54(4):321-7. Epub 2015 Feb 23 doi: 10.1016/j.bcmd.2015.01.011. PMID: 25842370

Clinical prediction guides

Merlet AN, Chatel B, Hourdé C, Ravelojaona M, Bendahan D, Féasson L, Messonnier LA
Med Sci Sports Exerc 2019 Jan;51(1):4-11. doi: 10.1249/MSS.0000000000001757. PMID: 30095751
Belini Junior E, Silva DG, Torres Lde S, Okumura JV, Lobo CL, Bonini-Domingos CR
Blood Cells Mol Dis 2015 Apr;54(4):321-7. Epub 2015 Feb 23 doi: 10.1016/j.bcmd.2015.01.011. PMID: 25842370

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