First Observation of Hb Taybe [Codons 38 39 (−Acc) Thr→0 (α1)] In Greece: Clinical and Hematological Findings in Patients With Co-Inherited α+-Thalassemia Mutations

• Published in: Hemoglobin Vol. 32; no. 4; pp. 371 - 378
• Main Authors: Douna, Varvara, Liapi, Dimitra, Kampourakis, Dimitrios, Repapinou, Zoe, Papassotiriou, Ioannis, Stamoulakatou, Alexandra, Poziopoulos, Christos, Kanavakis, Emmanuel, Traeger-Synodinos, Joanne
• Format: Journal Article
• Language: English
• Published: England Informa UK Ltd 01-01-2008; Taylor & Francis
• Subjects: Adult; alpha-Thalassemia - genetics; alpha-Thalassemia - pathology; Child; Erythrocyte Inclusions; Female; Genotype; Greece; Hb Taybe; Hemoglobins, Abnormal - genetics; Heterozygote; Humans; Jaundice; Male; Mutation; Phenotype; Reticulocyte Count; Splenomegaly; Thalassemia intermedia; Unstable hemoglobin (Hb); α-Thalassemia (α-thal); Greece
• ISSN: 0363-0269; 1532-432X
• DOI: 10.1080/03630260802173973

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 α+-thalassemia (α+-thal) mutations in trans to an in-frame 3 bp deletion at codons 38 39 (−ACC) on the α1-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.