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Sickle cell disease in Sicily

E F Roth, G Schiliro, A Russo

    Journal of Medical Genetics
    |February 1, 1980
    PubMed
    Summary
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    Sicilian sickle cell disease (Hb S) patients share identical haemoglobin S properties with US Black patients, originating from Africa. Erythrocytic differences observed may influence disease severity.

    Area of Science:

    • Hematology
    • Genetics
    • Anthropology

    Background:

    • Sickle cell haemoglobin (Hb S) is prevalent in Sicily, with its origins traced to Africa.
    • Understanding the characteristics of Sicilian Hb S is crucial for comprehending sickle cell disease (SCD) variations.

    Purpose of the Study:

    • To chemically and physically characterize Sicilian Hb S.
    • To compare erythrocytic properties between Sicilian and USA Black SCD patients.
    • To investigate potential factors influencing SCD severity in Sicily.

    Main Methods:

    • Electrophoretic mobility analysis (starch and citrate agar).
    • Solubility, precipitation rate, and gelling concentration tests.
    • Peptide mapping and amino-acid analysis of beta-chain peptides.

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  • Measurement of Hb F, 2,3-diphosphoglycerate (2,3-DPG), and red cell ATP levels.

    • Main Results:

    • Sicilian Hb S is chemically and physically identical to USA Black Hb S.
    • Sicilian SCD patients exhibited higher mean Hb F, 2,3-DPG, and red cell ATP levels compared to USA Black counterparts.
    • Severe and fatal complications of SCD were not observed in the studied Sicilian children.
    • Concomitant thalassaemia was excluded in Sicilian homozygotes.

    Conclusions:

    • Haemoglobin S in Sicilian homozygotes is biochemically identical to that in USA Blacks, with African origins.
    • Despite biochemical identity, distinct erythrocytic properties (Hb F, 2,3-DPG, ATP) were noted in Sicilian patients.
    • The influence of these differing erythrocytic factors on sickle cell disease severity requires further investigation.