A mild type of Hb S‐β+‐thalassemia [‐92(C→T)] in a sicilian family

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Abstract
Hematological data are presented for an adult Sicilian patient with a mild Hb S‐β+‐thalassemia caused by a C→T mutation at position −92 of the β promoter. This mutation was identified by sequencing of amplified DNA and was confirmed by dot‐blot analysis with specific probes. A comparison of levels of Hb S and Hb A in Hb S‐β‐thalassemia patients with different β‐thalassemia alleles showed great variations; the highest level of Hb A (45%) was recorded in the patient with Hb S‐β+‐thalassemia [‐92(C→T)] and the lowest (∼13%) in patients with Hb S‐β+‐thalassemia [IVS‐II‐745 (C→G)]. Clinical severity is directly related to the level of Hb A present.

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