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Updated: Dec 27, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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Hb Rush (HBB: c.304G>C): A Rare Variant Hemoglobin Mimicking the Hb S (HBB: c.20A>T) Variant on High Performance

Ranjeet S Mashon1, Reena Das2, Radhika Dhawan1

  • 1Department of Pathology, Christian Medical College and Hospital, Ludhiana, India.

Hemoglobin
|March 4, 2020
PubMed

High performance liquid chromatography (HPLC) is a useful and rapid tool in the evaluation of hemoglobin (Hb) disorders that include thalassemia and various hemoglobinopathies. Most of the techniques or programs used in automated testing platforms are customized to identify the common variants seen in that particular region. At times, variant Hbs may be identified which are not commonly seen in the local population. This may cause diagnostic dilemma and may require further studies for definitive characterization. We present a patient with Hb Rush (HBB: c.304G>C), a rare unstable Hb variant eluting in the Hb S (HBB: c.20A>T) window on HPLC.

Keywords:
DNA sequencingHb Rush (HBB: c.304G>C)Hb S (HBB: c.20A>T)high performance liquid chromatography (HPLC)retention time

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