Hb Fulton-Georgia [α20(B1)His→Pro; HBA1: c.62A>C]: A New α-Globin Variant Coinherited with α-Thalassemia-2 (3.7 kb deletion) and Hb SC Disease. (October 2013)

• Record Type: Journal Article
• Authors: Zhuang, Lina; Patel, Niren; Bryant, Shanequa; Kutlar, Abdullah; Kutlar, Ferdane; Young, Andrew N.
• Is Part Of: Hemoglobin. Volume 37:Number 5(2013)
• Page Start: 481
• Page End: 485
• Publication Date: 2013-10
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.810640
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>We report a novel hemoglobin (Hb) variant that we named Hb Fulton-Georgia, caused by a point mutation in exon 1/codon 20 of the α-globin gene [α20(B1)His→Pro; <italic>HBA1</italic>: c.62A&gt;C]. This α chain variant was identified in an adult African-American female with Hb SC disease who was also heterozygous for the α-thalassemia-2 (α-thal-2) (3.7 kb deletion or αα/–α^3.7). The Hb Fulton-Georgia mutation was located on the intact α1-globin gene not involved by α-thal-2. Molecular models indicated that the α20 residue of Hb Fulton-Georgia was the first amino acid of the B helix, and was not involved in α1/β1 or α1/β2 contacts in Hb S [β6(A3)Glu→Val; <italic>HBB</italic>: c.20A&gt;T] or Hb C [β6(A3)Glu→Lys; <italic>HBB</italic>: c.19G&gt;A] tetramers. Furthermore, the histidine→proline substitution at α20 did not disrupt the helical structure. High performance liquid chromatography (HPLC) detected Hb Fulton-Georgia in 16.0% of total Hb, consistent with inheritance on the α1 gene. Coinheritance of Hb Fulton-Georgia, heterozygous α-thal-2 and Hb SC disease was associated with a mild phenotype, consisting of microcytosis and anisocytosis, but no anemia or other hematological abnormality.</p> </abstract>