Genetic Analysis and Clinical Relevance of <b> <i>HBA1</i> </b> :c.305T &gt; C (Leu &gt; Pro): A Novel Variant Linked to α-Thalassemia

α-Thalassemia is a common genetic disorder marked by a reduced synthesis of α-globin chains, leading to varying degrees of anemia. In this study, we describe a novel variant, <i>HBA1:</i>c.305T > C (Leu > Pro), identified through next-generation sequencing (NGS) genomic screening. The proband, a 6-year-old female, presented with low hemoglobin levels (103 g/L) and microcytic anemia (MCV 58.6 fL, MCH 17.7 pg). To confirm the presence of this variant, Sanger sequencing was utilized, validating the heterozygous substitution of thymine for cytosine at nucleotide position 305 in the α-globin gene. Family studies indicated that this novel variant was inherited from the father, who also exhibited hematological indicators consistent with thalassemia (MCH 26.6 pg). Furthermore, the proband was found to carry a common β-thalassemia mutation at Codon 17 (A > T), inherited from her mother. Our findings highlight the clinical relevance of the <i>HBA1:</i>c.305T > C variant in the context of β-thalassemia, emphasizing the need for comprehensive phenotypic evaluations to elucidate the implications of novel mutations in thalassemia.