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Arch Pathol Lab Med. 2008 Nov;132(11):1739-45. doi: 10.1043/1543-2165-132.11.1739.

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

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  • 1Graduate School, Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Thailand.

Abstract

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.

PMID:
18976009
[PubMed - indexed for MEDLINE]
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