A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AGT>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt. (3rd September 2019)

• Record Type: Journal Article
• Authors: Shomali, William; Brar, Rondeep; Arekapudi, Subramanyeswara R.; Gotlib, Jason R.
• Is Part Of: Hemoglobin. Volume 43:Number 4/5(2019)
• Page Start: 273
• Page End: 276
• Publication Date: 2019-09-03
• Subjects: β-globin gene -- erythrocytosis -- Hb Vanderbilt -- oxygen affinity -- P50; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2019.1680382
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: High oxygen affinity hemoglobins (Hbs), characterized by a decreased ability to release oxygen to the tissues and a left-shifted oxygen dissociation curve, are a rare cause of secondary erythrocytosis. Here, we report a base substitution in the β-globin gene at codon 89 (AG T >AG G ) in a kindred with familial erythrocytosis resulting in Hb Vanderbilt, a high oxygen affinity variant.