Publication Cover
Hemoglobin
international journal for hemoglobin research
Latest Articles
0
Views
0
CrossRef citations to date
0
Altmetric
Brief Report

Hemoglobin Oviedo (c.115A > G; p.T39A): A Cause of Low Oxygen Saturation

, , , &
Received 20 May 2024, Accepted 12 Jul 2024, Published online: 02 Aug 2024

References

  • Stamatoyannopoulos G. The molecular basis of hemoglobin disease. Annu Rev Genet. 1972;6:47–70. doi:10.1146/annurev.ge.06.120172.000403.
  • Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391(10116):155–167. doi:10.1016/S0140-6736(17)31822-6.
  • Mairbäurl H, Weber RE. Oxygen transport by hemoglobin. Compr Physiol. 2012;2(2):1463–1489. doi:10.1002/cphy.c080113.
  • Schechter AN. Hemoglobin research and the origins of molecular medicine. Blood. 2008;112(10):3927–3938. doi:10.1182/blood-2008-04-078188.
  • Wood WG. Haemoglobin synthesis during human fetal development. Br Med Bull. 1976;32(3):282–287. doi:10.1093/oxfordjournals.bmb.a071376.
  • Mayordomo-Colunga J, Oñate Vergara E, Igartua Laraudogoitia J, et al. Pulse oximetry and capnography. In: Villanueva AM, et al., editors. Handbook of paediatric & neonatal mechanical ventilation. 6th ed. Las Palmas de Gran Canaria: Tesela ediciones; 2022.
  • Yoder RD, Seidenfeld A, Suwa K. Normal hemoglobin-oxygen affinity. Anesthesiology. 1975;42(6):741–744. doi:10.1097/00000542-197506000-00020.
  • Benner A, Patel AK, Singh K, et al. Physiology, Bohr effect. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing LLC; 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK526028/
  • Stamatoyannopoulos G, Parer JT, Finch CA. Physiologic implications of a hemoglobin with decreased oxygen affinity (hemoglobin seattle). N Engl J Med. 1969;281(17):915–919. doi:10.1056/NEJM196910232811701.
  • Böning D, Kuebler WM, Bloch W. The oxygen dissociation curve of blood in COVID-19. Am J Physiol Lung Cell Mol Physiol. 2021;321(2):L349–L357. doi:10.1152/ajplung.00079.2021.
  • Scholkmann F, Restin T, Ferrari M, et al. The role of methemoglobin and carboxyhemoglobin in COVID-19: a review. J Clin Med. 2020;10(1):50. doi:10.3390/jcm10010050.
  • Hladik A, Lynshue K. Dyshemoglobinemias and pulse oximetry: a therapeutic challenge. J Pediatr Hematol Oncol. 2008;30(11):850–852. doi:10.1097/MPH.0b013e31817e4a19.
  • Jubran A. Pulse oximetry. Crit Care. 2015;19(1):272. doi:10.1186/s13054-015-0984-8.
  • Chan ED, Chan MM, Chan MM. Pulse oximetry: understanding its basic principles facilitates appreciation of its limitations. Respir Med. 2013;107(6):789–799. doi:10.1016/j.rmed.2013.02.004.
  • Hunt CE, Corwin MJ, Lister G, et al. Longitudinal assessment of hemoglobin oxygen saturation in healthy infants during the first 6 months of age. J Pediatr. 1999;135(5):580–586. doi:10.1016/s0022-3476(99)70056-9.
  • Arva K, Sharma A. A rare combination of methemoglobinemia and carboxyhemoglobinemia in pesticide poisoning. Am J Emerg Med. 2022;62:148.e5–148-e7. doi:10.1016/j.ajem.2022.09.010.
  • Yudin J, Verhovsek M. How we diagnose and manage altered oxygen affinity haemoglobin variants. Am J Hematol. 2019;94(5):597–603. doi:10.1002/ajh.25425.
  • Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32:D537–D541. doi:10.1093/nar/gkh006.
  • Zhou X, Zheng W, Li Y, et al. I-TASSER-MTD: a deep-learning-based platform for multi-domain protein structure and function prediction. Nat Protoc. 2022;17(10):2326–2353. doi:10.1038/s41596-022-00728-0.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30.
  • Franklin by Genoox classification. Available from: https://franklin.genoox.com/clinical-db/variant/snp/chr11-5248007-T-C)
  • Garner C, Tatu T, Reittie JE, et al. Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood. 2000;95(1):342–346. doi:10.1182/blood.V95.1.342.
  • Taliercio RM, Ashton RW, Horwitz L, et al. Hb Grove City [β38(C4)Thr→Ser, ACC > AGC; HBB: c.116C > G]: a new low oxygen affinity β chain variant. Hemoglobin. 2013;37(4):396–403. doi:10.3109/03630269.2013.789794.
  • Blouquit Y, Delanoe-Garin J, Lacombe C, et al. Structural study of hemoglobin Hazebrouck, beta 38(C4)Thr—Pro. A new abnormal hemoglobin with instability and low oxygen affinity. FEBS Lett. 1984;172(2):155–158. doi:10.1016/0014-5793(84)81116-3.
  • Ropero P, Fernández-Lago C, Villegas A, et al. Hb La Coruña [beta38(C4)Thr–>Ile]: a new hemoglobin variant leading to familial polycythemia. Hemoglobin. 2006;30(3):379–383. doi:10.1080/03630260600755666.
  • Frischknecht H, Ventruto M, Hess D, et al. HB Hinwil or beta 38(C4)Thr–>Asn: a new beta chain variant detected in a Swiss family. Hemoglobin. 1996;20(1):31–40. doi:10.3109/03630269609027908.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.