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Mild Hb S-β+-Thalassemia with a Deletion of Five Nucleotides at the Polyadenylation Site of the β-Globin Gene

Subjects heterozygous for point mutations or short deletions at the polyadenylation (poly A) site of the b-globin gene have mild bþ-thalassemia (thal) (1). Several bþ-thal point mutations have been described in association with Hb S [b6(A3)Glu!Val] (1). At the poly A site, the bþ-thal AATAAA!AACAAA mutation has previously been reported in association with the (b) IVS-II-1 (G!A) mutation in a Turkish family and also with the b or b mutations in Black American patients (2,3). We report here a bþ-thal mutation at the poly A site with a deletion of five nucleotides (AATAAA! A) in association with Hb S, which was found in a 29-year-old Nigerian woman. Hematological and genotypic findings of the patient are given in Table 1. The patient, a Nigerian woman, was hospitalized for an E. coli septicemia. Hb S-b-thal was not diagnosed before this hospitalization. Physical examination showed no hepatomegaly or splenomegaly. Splenomegaly was only revealed by ultrasonic investigations. Iron level was very low (0.9 mmol=L; normal: 8–30 mmol=L) and the ferritin level was elevated (289 mg=L; normal: 15–150 mg=L). The patient was transfused for the first time during this hospitalization. After transfusion and treatment with antibiotics, the patient was seen