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Thalassemia Reports
Volume 7
Issue 1
10.4081/thal.2017.6504
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Case Report

Two Familial Cases of Hb Tyne Confirm Instability as Cause of Low Expression

by
Beverley M. Pullon
1,* and
Stephen O. Brennan
2,3
1
Hematology Department, Waikato Hospital, Hamilton 3204, New Zealand
2
Canterbury Health Laboratories, Christchurch, New Zealand
3
Molecular Pathology, University of Otago, Christchurch School of Medicine, Christchurch, New Zealand
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2017, 7(1), 6504; https://doi.org/10.4081/thal.2017.6504
Submission received: 21 December 2016 / Revised: 24 February 2017 / Accepted: 20 April 2017 / Published: 24 May 2017

Abstract

We report a second occurrence of hemoglobin (Hb) Tyne, [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser), which like the first case was associated with normal hematology. We verified the variant was mildly unstable by showing it was greatly enriched in isopropanol precipitates. This minor instability accounts for the slightly decreased expression of the new β chain. The variant was picked up as an interfering component on HbA1c testing using cation exchange high performance liquid chromatography (HPLC). However, this may be an advantage in detecting electrophoretically silent variants. Furthermore, this report also highlights the importance of uneven or sloping baselines on HPLC, which could reflect the presence of a variant hemoglobin even in the presence of normal electrophoresis and full blood count.
Keywords: Hb Tyne; hemoglobinopathy; heterozygous; HPLC; HbA1c Hb Tyne; hemoglobinopathy; heterozygous; HPLC; HbA1c

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MDPI and ACS Style

Pullon, B.M.; Brennan, S.O. Two Familial Cases of Hb Tyne Confirm Instability as Cause of Low Expression. Thalass. Rep. 2017, 7, 6504. https://doi.org/10.4081/thal.2017.6504

AMA Style

Pullon BM, Brennan SO. Two Familial Cases of Hb Tyne Confirm Instability as Cause of Low Expression. Thalassemia Reports. 2017; 7(1):6504. https://doi.org/10.4081/thal.2017.6504

Chicago/Turabian Style

Pullon, Beverley M., and Stephen O. Brennan. 2017. "Two Familial Cases of Hb Tyne Confirm Instability as Cause of Low Expression" Thalassemia Reports 7, no. 1: 6504. https://doi.org/10.4081/thal.2017.6504

APA Style

Pullon, B. M., & Brennan, S. O. (2017). Two Familial Cases of Hb Tyne Confirm Instability as Cause of Low Expression. Thalassemia Reports, 7(1), 6504. https://doi.org/10.4081/thal.2017.6504

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