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  • Title: A patient of German descent with (delta beta)0-thalassemia carrying the Sicilian type deletion of the delta and beta globin genes.
    Author: Hopmeier P, Shenhav A, Glaser G, Rachmilewitz EA, Oppenheim A.
    Journal: Hemoglobin; 1988; 12(1):39-51. PubMed ID: 3384697.
    Abstract:
    A deletion-type (delta beta)0-thalassemia with elevated production of fetal hemoglobin (Hb F) is described. The patient, homozygous for the disease, presented a clinical picture of beta-thalassemia intermedia. DNA analysis demonstrated that the deletion removed about 13 kb from the beta-globin cluster, including part of delta and the complete beta gene. The deletion appears to be identical to the previously described Sicilian deletion. Its presence in the homozygous state in a patient from Central Europe suggests that the deleted chromosome may be rather prevalent in that area.
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