Hematological and genotypic features of 100 patients with hemoglobin E disorders from Yunnan Province / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore hematological and genotypic characteristics of patients with hemoglobin E (Hb E) disorders from Yunnan Province.@*METHODS@#One hundred individuals with Hb E disorders indicated by high performance liquid chromatography (HPLC) were subjected to genetic testing through multiple gap-PCR and reverse dot-blotting analysis.@*RESULTS@#All patients were found to harbor a mutation to the 26th codon of the β -globin chain (HBB: c.79G>A). Ninety patients were heterozygotes, and 10 co-inherited c.79G>A and an α -thalassemia mutation (7 α α /-α, 2 α α /-- and 1 -α /-α). Hematological characteristics of the heterozygotes were: Hb A2 (26.02±3.64)%, Hb F(1.35±1.25)%, MCV(78.83±4.68) fl, MCH(26±1.54) pg, MCHC (329.65±10.73) g/L, HGB (141.08±16.53) g/L, while that of the co-inherited cases was decided by the type of α -thalassemia mutation.@*CONCLUSION@#Hb E can be effectively detected by HPLC. The type of α -thalassemia mutations will determine hematological features of co-inherited cases. Hb E disorders may be missed by relying only on routine blood test upon prenatal screening.