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Article: Novel Hemoglobin (Hb Grey Lynn) Substitution ([alpha]91Leu[arrow right]Phe) Affects Heme Interactions and [alpha]^sub 1^[beta]^sub 2^ Contacts
- Article from:
- Clinical Chemistry
- Article date:
- May 1, 2007
- Author:
CopyrightCopyright American Association for Clinical Chemistry May 2007. Provided by ProQuest LLC. (Hide copyright information)
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To the Editor:
Since the discovery of the causative mutation of sickle cell anemia, hemoglobinopathies have become the iconic molecular diseases, with some 900 mutations reported to date (http://globin.cse.psu.edu). Detection and characterization of novel mutations, facilitated by increasingly sensitive analytical techniques, continue to shed light on how molecular structure and function are preserved in the tetrameric molecule. Here we report the identification of a novel á chain substitution (α91Leu[arrow right]Phe) in a patient who was also heterozygous for the αSEA 2-gene deletion.
A full blood count on this 40-year-old woman revealed a microcytic picture with a hemoglobin ...