Clinical Chemistry
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Clinical Chemistry 53: 1718-1719, 2007; 10.1373/clinchem.2007.092262
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(Clinical Chemistry. 2007;53:1718-1719.)
© 2007 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Hemoglobin Hagley Park: A Novel ({alpha}82Ala->Thr) Substitution Identified in an Infant with Severe Hemolytic Anemia

Stephen O. Brennan1,2,a, Tim Chan1 and Michael Beard1

1 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:

The identification of new hemoglobin mutations and the correlation of structural changes with potential pathology continue to provide insights into how normal structure and function are preserved in the tetrameric molecule.

Hematological investigation of a 6-week-old infant with severe hemolytic anemia revealed a decreased hemoglobin concentration of 53 g/L, a decreased hematocrit of 0.15, and a decreased erythrocyte count of 1.8 x 1012/L. In addition the infant had an increase in reticulocytes (322 x 109/L) and bilirubin (96 µmol/L). Blood films showed a normochromic picture with irregularly shaped cells, elliptocytes, and erythrocyte fragments suggestive of an erythrocyte membrane defect. G6PD and pyruvate kinase concentrations were within reference intervals, and a presumptive diagnosis of hereditary elliptocytosis was made.

Cellulose acetate and citrate agar electrophoresis results were both within reference intervals, as was cation exchange chromatography on the Bio-Rad Variant ß-thalassemia system. Examination of whole lysate by electrospray ionization mass spectrometry on a VG Platform (1) showed that the complement of ß (15 867 Da), {gamma}G (15 995 Da), and {gamma}A . . . [Full Text of this Article]






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Copyright © 2007 by the American Association for Clinical Chemistry.