Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of alpha-thalassemia 1 and hemoglobin E.

CONTEXT: Thalassemia and hemoglobinopathies are major public health problems worldwide. To establish a cost-effective screening tool for newborns in regions where the incidence of these disorders is significant, study of the hemoglobin and hematologic features of normal and thalassemic newborns is necessary. OBJECTIVE: To study hemoglobin and hematologic characteristics of normal and various thalassemic newborns and to assess the effectiveness of simple screening methods for alpha-thalassemia 1 and hemoglobin E. DESIGN: Study was made of 402 cord blood specimens collected from unrelated Thai individuals. Hematologic parameters and hemoglobin profiles were determined. Thalassemia mutations were identified using polymerase chain reaction-related techniques. RESULTS: As many as 178 subjects (44.3%) were found to carry thalassemia genes with 18 different genotypes. All forms of alpha-thalassemia including double heterozygote for hemoglobin E and alpha-thalassemia showed significant reduction in hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin with increasing trend of red blood cell as compared with a non-alpha-thalassemic group. Although heterozygous hemoglobin E and beta-thalassemia showed no hematologic difference from nonthalassemic group, heterozygous alpha-thalassemia 1 including those with hemoglobin E showed significant increase in hemoglobin Bart level. CONCLUSIONS: Based on these findings, effective primary screening with 100% accuracy for alpha-thalassemia 1 and hemoglobin E in newborns in the region could be carried out using mean corpuscular volume less than 95 fL, mean corpuscular hemoglobin less than 30 pg, or hemoglobin Bart greater than 8.0% and hemoglobin E greater than 0.5%, respectively.