| Autor: |
Shivali Sehgal, Swati Sharma, Shailaja Shukla, Sunita Sharma |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Online Journal of Health & Allied Sciences, Vol 22, Iss 4 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
0972-5997 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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