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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 1
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Short Communication

A New Aγ-Globin Chain Variant: Hb F-Sykesville MD [Aγ113(G15)Val → Ile; HBG1: c.340G>A] Detected in a Caucasian Baby

Niren PatelDepartment of Medicine, Georgia Regent’s University Augusta, Augusta, Georgia, USA,
,
Jason FixlerDepartment of Pediatric Hematology-Oncology, The Herman and Walter Samuelson Children’s Hospital at Sinai Baltimore, Baltimore, Maryland, USA,
,
Yoram UnguruDepartment of Pediatric Hematology-Oncology, The Herman and Walter Samuelson Children’s Hospital at Sinai Baltimore, Baltimore, Maryland, USA, ;Johns Hopkins, Berman Institute of Bioethics, Baltimore, Maryland, USA
,
Abdullah KutlarDepartment of Medicine, Georgia Regent’s University Augusta, Augusta, Georgia, USA,
&
Ferdane KutlarDepartment of Medicine, Georgia Regent’s University Augusta, Augusta, Georgia, USA, Correspondence[email protected]
Pages 52-54 | Received 20 May 2014, Accepted 26 Jul 2014, Published online: 07 Jan 2015

References

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  • Kutlar A, Kutlar F. Laboratory Diagnosis of the Hemoglobinopathies, UpToDate, Wolters Kluwer Health, 2011. (Last updated 2013)
  • Kutlar A, Huisman THJ. Detection of hemoglobinopathies. In: Hommes FE, Ed. Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual. New York, NY: Wiley Liss Inc. 1991:519–560
  • Dainer E, Shell R, Miller R, et al. Neonatal cyanosis due to a novel fetal hemoglobin Hb F-Circleville (Gγ63(E7)His → Leu, CAT>CTT). Hemoglobin. 2008;32(6):596–600
  • Betts MJ, Russell RB. Amino acid properties and consequences of substitutions. In: Barnes MR, Gray IC, Eds. Bioinformatics for Geneticists. Chichester, West Sussex, UK: John Wiley & Sons Ltd. 2003:289–317
  • Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233 (http://globin.cse.psu.edu) (Accessed: November 12 2014)
  • Su CW, Liang S, Liang R, et al. Hb H disease in association with the silent β chain variant Hb Hamilton or α2β211(A8)Val → Ile. Hemoglobin. 1992;16(5):403–408
  • Huisman TJH. Review. Separation of hemoglobins and hemoglobin chains by high performance liquid chromatography. J Chromatogr. 1987;418:277–304
  • Chen SS, Wilson JB, Webber BB, et al. Hb F-Tokyo or α2Gγ2(B16)VAL → ILE, a silent γ chain variant detected by reverse phase high performance liquid chromatography. Hemoglobin. 1985;9(1):25–32

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