Further Identification of The Hyperunstable α-Globin Chain Variant Hb Heraklion [codons 36/37 (–CCC); Pro→0 (α1)] in Greek Cases With Co-Inherited α⁺-Thalassemia Mutations

Abstract

We report four Greek cases (from three unrelated families), who all had a similar atypical thalassemia intermedia phenotype, characterized by chronic moderate anemia, mild hemolysis and splenomegaly in the absence of abnormal hemoglobin (Hb) fractions. In all four cases (two unrelated children and two siblings), DNA analysis identified common α⁺-thalassemia (α⁺-thal) mutations in trans to the in frame 3 bp deletion (−CCC) on the α1-globin gene between codons 36 and 37, which has previously been reported as Hb Heraklion in a single Greek case. Clinical, hematological and biochemical findings in all cases, including a follow-up evaluation of the original case, are described. All the cases originated from the Greek island of Crete.

Keywords:

• Hb Heraklion
• Unstable hemoglobin (Hb)
• α-Thalassemia (α-thal)
• Thalassemia intermedia