Establishing hemoglobin A, F, A2 reference intervals in neonatal cord blood and clinical decision values for β-thalassemia genetic testing - 12/01/26
Highlights |
• | The RIs for HbA, HbF, and HbA2 were 7.8–29.4 %, 70.8–92.0 %, 0–0.4 % in females. |
• | The RIs for HbA, HbF, and HbA2 were 6.9–27.3 %, 72.1–93.3 %, 0–0.3 % in males. |
• | HbA2 was not a suitable marker for β-thalassemia genetic testing. |
• | CDVs for β-thalassemia genetic testing were HbA ≤ 8.1 % and ≥ 90.7 % in females. |
• | CDVs for β-thalassemia genetic testing were HbA ≤ 7.9 % A and ≥ 92.0 % in males. |
Abstract |
Objective |
Reference intervals for hemoglobin fractions in neonatal cord blood have been reported; however, there is no consensus on population-specific reference intervals (RIs) and laboratory-derived clinical decision values (CDVs) to guide genetic testing. Therefore, we aimed to establish RIs for HbA, HbF, and HbA2 in neonatal cord blood using a big-data-based indirect method and to determine CDVs for neonatal β-thalassemia genetic testing.
Methods |
In this retrospective study, we analyzed neonatal cord blood hemoglobin electrophoresis and β-thalassemia genetic testing data collected between January 2013 and November 2024. RIs for HbA, HbF, and HbA2 were established using an indirect method, and CDVs for β-thalassemia genetic testing were determined using receiver operating characteristic (ROC) curve analysis among neonates tested for β-thalassemia.
Results |
Significant sex-related differences were observed in the RIs for neonatal cord blood hemoglobin. The RIs for HbA, HbF, and HbA2 were 7.8–29.4 %, 70.8–92.0 %, and 0–0.4 % in females and 6.9–27.3 %, 72.1–93.3 %, and 0–0.3 % in males, respectively. HbA2 was not a suitable marker for β-thalassemia genetic testing due to its extremely low levels in neonatal cord blood. The CDVs for β-thalassemia genetic testing were HbA ≤ 8.1 % and HbF ≥ 90.7 % in females and HbA ≤ 7.9 % and HbF ≥ 92.0 % in males, respectively.
Conclusion |
In this study, we established population-specific RIs for neonatal cord hemoglobin and proposed CDVs indicating that β-thalassemia testing is warranted when HbF ≥ 90.7 % in females or ≥ 92.0 % in males.
Il testo completo di questo articolo è disponibile in PDF.Keywords : Big data, Indirect method, Cord blood, Reference intervals, Clinical decision values
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Vol 74 - N° 1
Articolo 103564- gennaio 2026 Ritorno al numero
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