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August 20, 2025Natural and Life Sciences Communications

First Case of Compound Heterozygotes for Hb G-Georgia (HBA2:c.287C>T)/α0-thalassemia --SEA Deletion Found in Northern Thailand

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Authors

MTMoe TheingiCRChedtapak RuengditMPManoo Punyamung

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Overview

Case report reveals compound heterozygosity for Hb G-Georgia and alpha thalassemia in a Thai woman, indicating genetic interactions matter.

Key Points

  • Patient showed microcytic hypochromic anemia symptoms including fatigue and dyspnea, alongside a notable Hb G-Georgia peak.
  • Hematological evaluation showed 50.8% Hb G-Georgia in the patient, indicating its presence in the blood profile.
  • Next-generation sequencing confirmed the HBA2:c.287C>T mutation linked to the Hb G-Georgia variant.
  • Understanding genetic interactions highlights the importance of tailored disease management and counseling approaches.

Cite This Study

Theingi et al. (2025) studied this question.

synapsesocial.com/papers/68af4eaead7bf08b1ead6fdbhttps://doi.org/10.12982/nlsc.2025.068
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