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Clinical Chemistry 53: 990-991, 2007; 10.1373/clinchem.2006.084939
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(Clinical Chemistry. 2007;53:990-991.)
© 2007 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Novel Hemoglobin (Hb Grey Lynn) Substitution ({alpha}91Leu->Phe) Affects Heme Interactions and {alpha}1ß2 Contacts

Stephen O. Brennan1,2,a, Tim Chan1 and Campbell Sheen2

1 Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
2 Pathology Department, Christchurch School of Medicine, University of Otago, Christchurch, New Zealand

aAddress correspondence to this author at: PO Box 151, Canterbury Health Laboratories, Christchurch, New Zealand. Fax 64-3-3640545; e-mail steve.brennan@chmeds.ac.nz.

The first 20% of the full text of this article appears below.


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 {alpha} chain substitution ({alpha}91Leu->Phe) in a patient who was also heterozygous for the {alpha}SEA 2-gene deletion.

A full blood count on this 40-year-old woman revealed a microcytic picture with a hemoglobin (Hb) concentration of 103 g/L, a mean cell volume of 63 fL, and a hematocrit of 0.33. These results prompted a hemoglobinopathy/thalassemia screen that revealed a normal cellulose acetate electrophoresis pattern, a marginally positive isopropanol stability test, and values within reference intervals for HbA2 (3.0%), HbF (2%), and reticulocytes. Occasional HbH bodies were seen, and the Bio-Rad Variant cation exchange system for ß-thalasaemia revealed an aberrant component of 35.5% in the HbA2 window.

Examination of whole lysate by electrospray ionization mass spectrometry . . . [Full Text of this Article]






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