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November 14, 2025Hemoglobin

Genetic Analysis and Clinical Relevance of HBA1 :c.305T > C (Leu > Pro): A Novel Variant Linked to α-Thalassemia

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Authors

LZLinju ZhouXHXiaoyan HuangWXWanghua Xiao

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Overview

Genetic analysis reveals a novel HBA1 variant linked to α-thalassemia and β-thalassemia mutations, indicating critical clinical implications.

Key Points

  • To investigate a novel HBA1 variant and its clinical significance in thalassemia.
  • Performed next-generation sequencing for genomic screening
  • Used Sanger sequencing to confirm the variant
  • Conducted family studies to assess inheritance patterns
  • Identified a novel HBA1 variant c.305T > C linked to α-thalassemia
  • Proband exhibited microcytic anemia with low hemoglobin levels
  • Inherently, the variant was passed down from the father with thalassemia-related indicators

Cite This Study

Zhou et al. (2025) studied this question.

synapsesocial.com/papers/69251999c0ce034ddc353b2ehttps://doi.org/10.1080/03630269.2025.2582613
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Also Consider

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  1. 1Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of <i>HBB</i> : C.84_85insC and Common Linked Intronic Variants in <i>HBB</i>2025
  2. 2Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D <i>HBA1</i> : C.119_121delCCA Mutation and <i>HBA2</i> : C.*94A &gt; G Mutation2024
  3. 3Premarital Counseling on the Alpha Thalassemia Allele HBA2:c.*94A&gt;G2024
  4. 4Hb Thessaloniki, a Novel, Hyperunstable, Alpha Globin Variant Detected in Northern Greece2026
  5. 5Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia2024 · 1 citations