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  • Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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24 May 2017

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

and
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
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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.

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