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Stability and Structure of Bat Major Histocompatibility Complex Class I with Heterologous β2-Microglobulin
Published on: March 10, 2021
A new stable alpha chain variant: Hb Basel [alpha14(A12)Trp-->Leu (alpha1)]
Martin Hergersberg1, Saskia Brunner-Agten, Thomas Kühne
1Center of Laboratory Medicine, Kantonsspital Aarau, Aarau, Switzerland.
Hemoglobin
|June 8, 2010
Summary
A novel alpha1-globin gene mutation was found in a patient with severe anemia. This genetic variant, however, appears stable and lacks direct pathological effects.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Alpha-globin gene mutations are associated with various anemias.
- Accurate identification of novel mutations is crucial for understanding hemoglobinopathies.
Observation:
- An 18-year-old Portuguese woman presented with severe hypochromic anemia and iron deficiency.
- High-performance liquid chromatography revealed a significant hemoglobin variant (approx. 12% of total Hb).
Findings:
- A new missense mutation, alpha14(A12)Trp-->Leu (HBA1:c.44G
- The same mutation was detected in the patient's mother, confirming its inheritance.
Implications:
- This specific alpha-globin variant appears to be stable.
- The identified mutation does not seem to cause direct pathophysiological or hematological consequences in the carriers.
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