Comparison of screening indicators for different types of thalassemia carriers in Hunan Province

Area of Science:

• Genetics
• Hematology
• Public Health

Background:

• Thalassemia carrier screening is crucial for preventing the genetic blood disorder.
• Variations in race and genotype affect standard indicators like MCV, MCH, and HbA2.
• Accurate identification of different thalassemia types is essential for effective screening.

Purpose of the Study:

• To evaluate common screening indicators for alpha, beta, and compound alpha-beta thalassemia carriers in Hunan Province.
• To assess the utility of existing formulas in predicting and differentiating thalassemia carrier types.
• To improve the accuracy of thalassemia carrier identification in the region.

Main Methods:

• Utilized receiver operating characteristic (ROC) curve analysis combined with the Youden index.
• Analyzed data from blood routine examinations and hemoglobin electrophoresis.
• Applied literature-related formulas to a cohort of 1111 alpha-thalassemia, 464 beta-thalassemia, and 24 compound alpha-beta thalassemia carriers.

Main Results:

• Identified optimal screening indicators and formulas for distinguishing between different thalassemia carrier types.
• Demonstrated the effectiveness of ROC curve analysis in evaluating diagnostic accuracy.
• Provided a basis for refined thalassemia screening protocols in Hunan Province.

Conclusions:

• Common screening indicators, when analyzed with ROC curves and specific formulas, can effectively differentiate between alpha, beta, and compound alpha-beta thalassemia carriers.
• The study provides a validated approach for improving the accuracy of thalassemia carrier screening in the studied population.
• Refined screening strategies based on these findings can enhance the prevention of thalassemia.