[Application Value of Capillary Electrophoresis in Screeningβ-Thalassemia of Children]

Area of Science:

• Hematology
• Clinical Diagnostics
• Genetics

Background:

• Beta-thalassemia is a significant inherited blood disorder affecting children globally.
• Accurate and efficient screening methods are crucial for early diagnosis and management.
• Capillary electrophoresis offers a promising technique for hemoglobin analysis.

Purpose of the Study:

• To evaluate the diagnostic value of capillary electrophoresis for screening beta-thalassemia in pediatric populations.
• To determine reliable laboratory cutoff values for hemoglobin A2 (HbA2) and hemoglobin F (HbF) in beta-thalassemia screening.
• To assess the sensitivity and specificity of capillary electrophoresis in identifying various beta-thalassemia genotypes.

Main Methods:

• Retrospective analysis of hemoglobin capillary electrophoresis and genetic data from 886 children.
• Utilization of Receiver Operating Characteristic (ROC) curves to establish cutoff values for HbA2 and HbF.
• Correlation of electrophoretic findings with genetic diagnoses to confirm beta-thalassemia cases.

Main Results:

• A cutoff value of 3.65% for HbA2 demonstrated high sensitivity (0.995) and specificity (0.996) for screening minor beta-thalassemia.
• A cutoff value of 1.45% for HbF showed moderate sensitivity (0.675) and specificity (0.751) for screening minor beta-thalassemia.
• The study identified rare mutations, including codon5 (CCT→C), SEA -HPFH β deletion, a double heterozygous mutation (-28 (A→G) merger IVS-Ι-128 (T→G)), and a novel 47 bp β gene deletion.

Conclusions:

• Capillary electrophoresis is a highly sensitive and specific method for screening beta-thalassemia in children.
• This technique is particularly valuable for detecting rare and complex forms of beta-thalassemia.
• Established cutoff values for HbA2 and HbF enhance the diagnostic accuracy of capillary electrophoresis in pediatric beta-thalassemia screening.