The value of Mentzer index in the diagnosis of children thalassemia minor
Objective: To explore the effect of the Mentzer Index (MI) in screening for children thalassemia (TT) minor.Methods: We determined the MI cutoff value of diagnosing TT minor in children by utilizing a receiver operating characteristic (ROC) curve. Samples with MI values below this threshold, and no...
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Taylor & Francis Group
2024-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2024.2405750 |
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| author | Tao Wu Zhenmin Ren Yandie Feng Defa Li Yunsheng Chen |
| author_facet | Tao Wu Zhenmin Ren Yandie Feng Defa Li Yunsheng Chen |
| author_sort | Tao Wu |
| collection | DOAJ |
| description | Objective: To explore the effect of the Mentzer Index (MI) in screening for children thalassemia (TT) minor.Methods: We determined the MI cutoff value of diagnosing TT minor in children by utilizing a receiver operating characteristic (ROC) curve. Samples with MI values below this threshold, and no detectable gene mutations or IDA were further analyzed using Sanger sequencing or specific primer GAP-PCR.Results: In the differential diagnosis of silent α-thalassemia (α-TT) and IDA, the area under the ROC curve (AUC) for the Mentzer index (MI) was 0.561. The most Youden index indicates an MI cutoff value of 16.833, with a sensitivity of 1.000 and a specificity of 0.278. For distinguishing α-TT minor from IDA, the AUC was 0.909, with an MI cutoff value of 12.24, a sensitivity of 0.875, and a specificity of 0.778. When distinguishing β-TT minor from IDA, the AUC was 0.907, with an MI cutoff value of 11.82, a sensitivity of 0.917, and a specificity of 0.768. Utilizing these MI cutoff values, three cases of rare TT genotype were identified, including a previously unreported heterozygous mutation of IVS-II-55 (T > G) in the alpha2 (αIVS-II-55(T > G)/αα).Conclusion: The diagnostic precision of MI is limited when differentiating between silent α-TT and IDA, but it is higher when distinguishing between α-TT minor, β-TT minor, and IDA. This study established a cutoff value for MI in our laboratory, providing reliable data for screening for TT minor and discovering rare TT genotypes among children in the local area. |
| format | Article |
| id | doaj-art-6a9e15d224e94c57bcb2248bd00ac88f |
| institution | Kabale University |
| issn | 1607-8454 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-6a9e15d224e94c57bcb2248bd00ac88f2024-12-12T15:08:53ZengTaylor & Francis GroupHematology1607-84542024-12-0129110.1080/16078454.2024.2405750The value of Mentzer index in the diagnosis of children thalassemia minorTao Wu0Zhenmin Ren1Yandie Feng2Defa Li3Yunsheng Chen4Department of Laboratory Medicine, Shenzhen Pediatrics Institute of Shantou University Medical College, Shenzhen, People’s Republic of ChinaDepartment of Laboratory Medicine, Shenzhen Children’s Hospital, Shenzhen, People’s Republic of ChinaDepartment of Laboratory Medicine, Chongqing Medical University, Chongqing, People’s Republic of ChinaDepartment of Laboratory Medicine, Shenzhen Pediatrics Institute of Shantou University Medical College, Shenzhen, People’s Republic of ChinaDepartment of Laboratory Medicine, Shenzhen Pediatrics Institute of Shantou University Medical College, Shenzhen, People’s Republic of ChinaObjective: To explore the effect of the Mentzer Index (MI) in screening for children thalassemia (TT) minor.Methods: We determined the MI cutoff value of diagnosing TT minor in children by utilizing a receiver operating characteristic (ROC) curve. Samples with MI values below this threshold, and no detectable gene mutations or IDA were further analyzed using Sanger sequencing or specific primer GAP-PCR.Results: In the differential diagnosis of silent α-thalassemia (α-TT) and IDA, the area under the ROC curve (AUC) for the Mentzer index (MI) was 0.561. The most Youden index indicates an MI cutoff value of 16.833, with a sensitivity of 1.000 and a specificity of 0.278. For distinguishing α-TT minor from IDA, the AUC was 0.909, with an MI cutoff value of 12.24, a sensitivity of 0.875, and a specificity of 0.778. When distinguishing β-TT minor from IDA, the AUC was 0.907, with an MI cutoff value of 11.82, a sensitivity of 0.917, and a specificity of 0.768. Utilizing these MI cutoff values, three cases of rare TT genotype were identified, including a previously unreported heterozygous mutation of IVS-II-55 (T > G) in the alpha2 (αIVS-II-55(T > G)/αα).Conclusion: The diagnostic precision of MI is limited when differentiating between silent α-TT and IDA, but it is higher when distinguishing between α-TT minor, β-TT minor, and IDA. This study established a cutoff value for MI in our laboratory, providing reliable data for screening for TT minor and discovering rare TT genotypes among children in the local area.https://www.tandfonline.com/doi/10.1080/16078454.2024.2405750Mentzer indexThalassemia minoriron deficiency anemiaROC curverare thalassemia genotypescutoff value |
| spellingShingle | Tao Wu Zhenmin Ren Yandie Feng Defa Li Yunsheng Chen The value of Mentzer index in the diagnosis of children thalassemia minor Hematology Mentzer index Thalassemia minor iron deficiency anemia ROC curve rare thalassemia genotypes cutoff value |
| title | The value of Mentzer index in the diagnosis of children thalassemia minor |
| title_full | The value of Mentzer index in the diagnosis of children thalassemia minor |
| title_fullStr | The value of Mentzer index in the diagnosis of children thalassemia minor |
| title_full_unstemmed | The value of Mentzer index in the diagnosis of children thalassemia minor |
| title_short | The value of Mentzer index in the diagnosis of children thalassemia minor |
| title_sort | value of mentzer index in the diagnosis of children thalassemia minor |
| topic | Mentzer index Thalassemia minor iron deficiency anemia ROC curve rare thalassemia genotypes cutoff value |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2024.2405750 |
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