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

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 sub...

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Bibliographic Details
Published in:Online journal of health & allied sciences : OJHAS 2024-01, Vol.22 (4)
Main Authors: Shivali Sehgal, Swati Sharma, Shailaja Shukla, Sunita Sharma
Format: Article
Language:English
Subjects:
hb fontainebleau
hemoglobin
hemoglobinopathy
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Summary: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.
ISSN:0972-5997