SHORT COMMUNICATION
Hb MANAWATU [a37(C2)Pro!Leu]: A NEW
MILDLY UNSTABLE MUTATION AT AN
INVARIANT PROLINE RESIDUE
Stephen O. Brennan,
1,
*
Campbell Sheen,
1
and Stephen Johnson
2
1
Molecular Pathology Laboratory, Canterbury Health Laboratories,
P.O. Box 151, Christchurch, New Zealand
2
Haematology Laboratory, Medlab Central, Palmerston North Hospital,
Palmerston North, New Zealand
Hb Manawatu [a37(C2)Pro!Leu] was detected in a 28-year-old female of British
descent. Stability tests gave the first indication of the presence of an abnormal Hb,
the isopropanol test giving a strong precipitate by 5 mins. Her MCV and MCH
were low at 74.0fL and 24.0pg, respectively, while other red cell indices were
within the normal range (Hb 12.2 g=L, RBC 5.2610
12
=L, PCV 0.38 L=L, MCHC
31.7 g=dL). Hb F (measured by alkaline resistance) and Hb A
2
levels were normal
at <1% and 2.7%, respectively. No Hb H bodies were detected and there was no
indication of hemolysis, as evinced by a normal haptoglobin level of 1.4g=L and a
normal reticulocyte count (57610
9
=L).
Cellulose acetate electrophoresis at pH 8.6 was normal, as was the elution
profile from cation exchange high performance liquid chromatography (HPLC) at
pH 6.5. Electrospray ionization mass spectrometry (ESI=MS),
[1]
however, showed
that some 20% of the a chain material had a mass of 15,144 Da compared to
15,126 Da for the normal a
A
chain (Fig. 1). The fact that the new signal was not
resolved from the Na adduct of a
A
at þ22 Da meant that the actual mass increase
associated with the putative substitution might be somewhat less than the
measured þ18 Da. This was confirmed by examination of the re-dissolved
(1% HCOOH) isopropanol precipitate which showed that the unstable Hb had a
chains of mass 15,142 Da, 16 Da higher than normal (Fig. 1).
*
Corresponding author. Fax: þ(64 3) 3640545; E-mail: steve.brennan@chmeds.ac.nz
389
DOI: 10.1081=HEM-120016376 0363-0269 (Print); 1532-432X (Online)
Copyright # 2002 by Marcel Dekker, Inc. www.dekker.com
HEMOGLOBIN
Vol. 26, No. 4, pp. 389–392, 2002
©2002 Marcel Dekker, Inc. All rights reserved. This material may not be used or reproduced in any form without the express written permission of Marcel Dekker, Inc.
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