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alpha-Thalassaemia in Sardinian infants

R Galanello, G Diana, M Furbetta

    Journal of Medical Genetics
    |October 1, 1980
    PubMed
    Summary

    A study on Sardinian newborns found 12.9% had elevated Hemoglobin Bart's, with varying levels indicating different forms of alpha-thalassaemia. Some infants also showed co-inherited beta-thalassaemia.

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    Area of Science:

    • Genetics
    • Hematology
    • Public Health

    Background:

    • Hemoglobin Bart's is a marker for alpha-thalassaemia, a common inherited blood disorder.
    • Prevalence and clinical significance of Hemoglobin Bart's in newborns require further investigation.

    Purpose of the Study:

    • To determine the incidence and distribution of Hemoglobin Bart's in Sardinian newborns.
    • To correlate Hemoglobin Bart's levels with red cell indices, globin chain synthesis, and clinical outcomes.

    Main Methods:

    • Newborn screening for Hemoglobin Bart's using high-performance liquid chromatography.
    • Follow-up assessments including red cell indices, globin chain synthesis analysis, and genotype determination.

    Main Results:

    • Overall incidence of Hemoglobin Bart's >1% was 12.9%, with trimodal distribution (1-2%, 2-10%, ~25%).
    • Higher Hemoglobin Bart's levels correlated with alpha-thalassaemia, including Hemoglobin H disease and heterozygous alpha-thalassaemia.
    • Some infants with high Hemoglobin Bart's levels were double heterozygotes for alpha- and beta-thalassaemia.

    Conclusions:

    • Hemoglobin Bart's levels in newborns provide valuable information for diagnosing alpha-thalassaemia and identifying co-inherited disorders.
    • Early identification of thalassaemia carriers and affected infants is crucial for genetic counseling and management.

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