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First observation of Hb Taybe [Codons 38/39 (-Acc) Thr-->0 (alpha1)] in Greece: clinical and hematological findings in patients with co-inherited alpha+-thalassemia mutations

, : First observation of Hb Taybe [Codons 38/39 (-Acc) Thr-->0 (alpha1)] in Greece: clinical and hematological findings in patients with co-inherited alpha+-thalassemia mutations. Hemoglobin 32(4): 371-378

This report describes four unrelated Greek patients (one child and three adults) who all had an atypical thalassemia intermedia phenotype, characterized by chronic moderate anemia with mild hemolysis in some cases, and the absence of abnormal hemoglobin (Hb) fractions. DNA analysis identified the inheritance of common alpha(+)-thalassemia (alpha(+)-thal) mutations in trans to an in-frame 3 bp deletion at codons 38/39 (-ACC) on the alpha1-globin gene, previously described as Hb Taybe. Hematological findings in the parents of three of the Hb Taybe carrier cases, together with a fourth unrelated carrier, are also presented. These cases represent the first observation of Hb Taybe in the Greek population, as to date, it has only been observed in Israeli-Arab families. With the exception of one patient and his mother who both originate from Corfu, all our cases come from the Greek island of Crete.


PMID: 18654887

DOI: 10.1080/03630260802173973

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