<p>Hb Queens Park [QP; α32(B13)Met→Lys,(HBA1:c.98T &gt; A)] is a rare α-globin variant. Its genotype-phenotype relationship with α-thalassemia has not been described in Northern Thailand. Hemoglobin analysis was performed using capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). The α<sup>0</sup>-thalassemia (--<sup>SEA</sup>, --<sup>Thai</sup>, and --<sup>Chiang Rai</sup>) was diagnosed by real-time PCR with high-resolution melting analysis, whereas the α<sup>+</sup>-thalassemia (-α<sup>3.7</sup> and -α<sup>4.2</sup>) was identified by conventional gap-PCR. Next-generation sequencing (NGS) was used to identify the mutations in the <i>HBA1</i>, <i>HBA2</i>, and <i>HBB</i> genes. Three individuals with Hb QP were studied. A heterozygosity for Hb QP alone displayed normal red cell indices, revealing minor hematological effects. The individual with compound heterozygosity for Hb QP and α<sup>+</sup>-thalassemia -α<sup>3.7</sup> deletion who coinherited with HbE trait showed mild anemia alongside persistent microcytosis and HbA<sub>2</sub>/E levels lower than 25%. A subject with compound heterozygosity for Hb QP and α<sup>0</sup>-thalassemia --<sup>SEA</sup> deletion displayed significant microcytosis and moderate anemia, demonstrating a more severe phenotype. Hb QP alone typically shows mild or no symptoms but exhibits increased hematological severity when combined with α-thalassemia. This information might be useful for thalassemia screening, genetic counseling, control, prevention, and treatment.</p>

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Compound Heterozygosity for Hb Queens Park (α32(B13)Met→Lys) and α-thalassemia Found in Northern Thailand

  • Moe Moe Paing,
  • Chedtapak Ruengdit,
  • Manoo Punyamung,
  • Sakorn Pornprasert

摘要

Hb Queens Park [QP; α32(B13)Met→Lys,(HBA1:c.98T > A)] is a rare α-globin variant. Its genotype-phenotype relationship with α-thalassemia has not been described in Northern Thailand. Hemoglobin analysis was performed using capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). The α0-thalassemia (--SEA, --Thai, and --Chiang Rai) was diagnosed by real-time PCR with high-resolution melting analysis, whereas the α+-thalassemia (-α3.7 and -α4.2) was identified by conventional gap-PCR. Next-generation sequencing (NGS) was used to identify the mutations in the HBA1, HBA2, and HBB genes. Three individuals with Hb QP were studied. A heterozygosity for Hb QP alone displayed normal red cell indices, revealing minor hematological effects. The individual with compound heterozygosity for Hb QP and α+-thalassemia -α3.7 deletion who coinherited with HbE trait showed mild anemia alongside persistent microcytosis and HbA2/E levels lower than 25%. A subject with compound heterozygosity for Hb QP and α0-thalassemia --SEA deletion displayed significant microcytosis and moderate anemia, demonstrating a more severe phenotype. Hb QP alone typically shows mild or no symptoms but exhibits increased hematological severity when combined with α-thalassemia. This information might be useful for thalassemia screening, genetic counseling, control, prevention, and treatment.