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Hemoglobin
international journal for hemoglobin research
Volume 43, 2019 - Issue 4-5
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Short Communications

A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AGT>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt

William ShomaliDivision of Hematology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA; ORCID Iconhttp://orcid.org/0000-0001-6500-350XView further author information
ORCID Icon,
Rondeep BrarDivision of Hematology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA; View further author information
,
Subramanyeswara R. ArekapudiDivision of Hematology and Oncology, VA Central California Health Care System/UCSF Fresno Center for Medical Education and Research, Fresno, CA, USAView further author information
&
Jason R. GotlibDivision of Hematology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA; Correspondence[email protected]
View further author information
Pages 273-276 | Received 12 Jul 2019, Accepted 10 Sep 2019, Published online: 28 Oct 2019

References

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  • HbVar Database. http://globin.bx.psu.edu/hbvar/menu.html. Accessed May 25 2019.
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  • Goodyer MJ, Elhassadi EI, Percy MJ, et al. A novel base change leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA]. Hemoglobin. 2011;35(4):428–429.
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  • Wajcman H, Kister J, Promé D, et al. Hb Villaverde [β89(F5)Ser→Thr]: the structural modification of an intrasubunit contact is responsible for a high oxygen affinity. Biochim Biopys Acta. 1993;1225(1):89–94.
  • Percy MJ, Butt NN, Crotty GM, et al. Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis. Haematologica. 2009;94(9):1321–1322.
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