A Rare α-chain Variant Hb Fontainebleau in an Adult Male – Lessons Learnt

Abstract

Haemoglobinopathies constitute a large proportion of hemolytic anemias constituting around 74% of hereditary hemolytic anemias. Till date, about 200 alpha chain variants have been identified, one of which is Hb Fontainebleau. It is a rare alpha chain variant characterized by an Alanine → Proline substitution at codon 21 with a GCT>CCT change at the molecular level. It is incidentally detected on HPLC as an unknown peak. We present a case of Hb Fontainebleau in a 53 year old male patient who presented with symptoms related to hemolytic anemia and an unknown peak on the HPLC chromatogram.

Keywords

• hemoglobinopathy
• hb fontainebleau
• hemoglobin