Hemoglobin Denver [alpha 2 beta 2(41) (C7) Phe-->Ser]: a low-O2-affinity variant associated with chronic cyanosis and anemia
- PMID:8133661
- DOI: 10.1016/s0025-6196(12)61062-3
Hemoglobin Denver [alpha 2 beta 2(41) (C7) Phe-->Ser]: a low-O2-affinity variant associated with chronic cyanosis and anemia
Abstract
Objective: To report a previously undescribed low-O2-affinity hemoglobin variant that is associated with chronic cyanosis.
Design: Pertinent laboratory and historical data for the index case (from Denver, Colorado) and certain family members were recorded, and the hemoglobin variant was characterized.
Material and methods: Electrophoresis, high-performance liquid chromatography (HPLC), and isoelectric focusing were used to examine blood specimens for the presence of hemoglobin variants, and the O2 affinity of whole blood was determined. The abnormal peptide detected on reverse-phase HPLC of separated globin chains was analyzed for its amino acid composition and sequence.
Results: Although no abnormal hemoglobin band separated from hemoglobin A on electrophoresis, HPLC, and isoelectric focusing, a heat test showed hemoglobin instability, and O2 affinity studies disclosed an appreciably right-shifted dissociation curve. On chromatography, the new variant--hemoglobin Denver--was found to be due to a substitution of serine for phenylalanine at position 41 (C7) in the beta chain. In addition to substantial reduction in O2 affinity, hemoglobin Denver is accompanied by moderate reticulocytosis and mild anemia.
Conclusion: Hemoglobin Denver causes no clinical symptoms other than cyanosis, which is attributable to the low O2 affinity.
Similar articles
- Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.Kohli-Kumar M, Zwerdling T, Rucknagel DL.Kohli-Kumar M, et al.Am J Hematol. 1995 May;49(1):43-7. doi: 10.1002/ajh.2830490108.Am J Hematol. 1995.PMID:7741137
- Hb Warsaw (beta 42 Phe----Val): an unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression.Honig GR, Telfer MC, Rosenblum BB, Vida LN.Honig GR, et al.Am J Hematol. 1989 Sep;32(1):36-41. doi: 10.1002/ajh.2830320108.Am J Hematol. 1989.PMID:2757001
- Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr].Göttgens EL, Baks K, Harteveld CL, Goossens K, van Gammeren AJ.Göttgens EL, et al.Hematology. 2021 Dec;26(1):914-918. doi: 10.1080/16078454.2021.1999048.Hematology. 2021.PMID:34789072
- Clinically important variants of human hemoglobin.Ranney HM.Ranney HM.N Engl J Med. 1970 Jan 15;282(3):144-52. doi: 10.1056/NEJM197001152820307.N Engl J Med. 1970.PMID:4902228Review.No abstract available.
- The first Chinese case of unstable Hemoglobin Santa Ana detected by capillary electrophoresis: a case report and literature review.Du L, Qin D, Wang J, Yao C, Zhu J, Guo H, Yuan T, Liang J, Yin A.Du L, et al.Hematology. 2022 Dec;27(1):258-262. doi: 10.1080/16078454.2022.2035049.Hematology. 2022.PMID:35192774Review.
Cited by
- Abnormal haemoglobins, Hb Takamatsu and Hb G-Szuhu, detected during the analysis of glycated haemoglobin (HbA1C) by high performance liquid chromatography.Moriwaki Y, Yamamoto T, Shibutani Y, Harano T, Takahashi S, Hada T.Moriwaki Y, et al.J Clin Pathol. 2000 Nov;53(11):854-7. doi: 10.1136/jcp.53.11.854.J Clin Pathol. 2000.PMID:11127269Free PMC article.
- Unusually Low Oxyhemoglobin Saturation on Polysomnography.Mansukhani MP, Kolla BP, Altchuler SI.Mansukhani MP, et al.J Clin Sleep Med. 2017 Apr 15;13(4):629-631. doi: 10.5664/jcsm.6562.J Clin Sleep Med. 2017.PMID:28212696Free PMC article.No abstract available.
- Tetramer-dimer equilibrium of oxyhemoglobin mutants determined from auto-oxidation rates.Griffon N, Baudin V, Dieryck W, Dumoulin A, Pagnier J, Poyart C, Marden MC.Griffon N, et al.Protein Sci. 1998 Mar;7(3):673-80. doi: 10.1002/pro.5560070316.Protein Sci. 1998.PMID:9541399Free PMC article.
Publication types
MeSH terms
Substances
Related information
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous