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Published on: March 10, 2021
A new high affinity variant Hb Aurillac (β141Leu→Val).
Guilaine Boursier1, Sébastien Trouillier, Muriel Giansily Blaizot
1Laboratory of Hematology, Saint-Eloi Hospital , CHU de Montpellier, Montpellier , France.
Hemoglobin
|July 18, 2013
Summary
A novel hemoglobin variant, HBB:c.424C>G, was identified. This variant, unlike previously described Hb Kochi, is not clinically silent and causes increased oxygen affinity and mild erythrocytosis.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Hemoglobin (Hb) variants are common genetic alterations affecting oxygen transport.
- Hb Kochi is defined by two mutations: HBB:c.424C>G (β141 Leu→Val) and HBB:c.433A>T (β144 Lys-Tyr-His→0).
Observation:
- The mutation HBB:c.424C>G (β141 Leu→Val) was found as an isolated genetic finding.
- This isolated variant presented distinct clinical and physiological characteristics compared to the combined Hb Kochi mutations.
Findings:
- The isolated HBB:c.424C>G variant demonstrated increased oxygen affinity.
- This hemoglobinopathy was associated with mild erythrocytosis, indicating a clinically significant phenotype.
Implications:
- The findings challenge the assumption that this specific mutation is clinically silent when isolated.
- Understanding the distinct effects of individual mutations is crucial for accurate diagnosis and management of hemoglobinopathies.
