Assuntos
Leucemia Megacarioblástica Aguda , Humanos , Leucemia Megacarioblástica Aguda/genética , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Translocação Genética , Fagocitose , Proteína 2 de Ligação ao Retinoblastoma/genética , Proteína 2 de Ligação ao Retinoblastoma/metabolismoRESUMO
OBJECTIVE: to explore the value of capillary electrophoresis in screening ß- thalassemia of children, and to establish the cutoff values of HbA2 and HbF in our laboratory. METHODS: The data of hemoglobin capillary electrophoresis and genetic diagnosis of ß- thalassemia from 886 examined children were retrospectively analyzed. The cutoff values of HbA2 and HbF were determined by ROC curve. RESULTS: The cutoff value of HbA2 screening minor ß- thalassemia was 3.65%, the specificity was 0.996, and the sensitivity was 0.995. The cut-off value of HbF for screening minor ß- thalassemia was 1.45%, specificity was 0.751 and sensitivity was 0.675. Thus, 1 case with codon5 (CCTâC) mutation, 1 case with SEA -HPFH ß deletion, 1 case with - 28 (AâG) merger IVS-Ι-128 (TâG) double heterozygous mutations yet were found out, 1 case with 47 bp ß gene missing has not yet been reported in literature. CONCLUSION: Capillary electrophoresis has more high sensitivity and specificity in the screening of ß- thalassemia in children, especially for the detection of rare ß- thalassemia.
