title: Further identification of the hyperunstable alpha-globin chain variant Hb Heraklion [codons 36/37 (-CCC); Pro-->0 (alpha1)] in Greek cases with co-inherited alpha+-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 alpha(+)-thalassemia (alpha(+)-thal) mutations in trans to the in frame 3 bp deletion (-CCC) on the alpha1-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.
authors.affiliation: Hematology Laboratory, P and A Kyriakou Children's Hospital, Athens, Greece.
authors.forename: Varvara
authors.initials: V
authors.lastname: Douna
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papassotiriou
authors.forename: Anna
authors.initials: A
authors.lastname: Metaxotou-Mavrommati
authors.forename: Alexandra
authors.initials: A
authors.lastname: Stamoulakatou
authors.forename: Dimitra
authors.initials: D
authors.lastname: Liapi
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Kampourakis
authors.forename: Amalia
authors.initials: A
authors.lastname: Tsilimigaki
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Joanne
authors.initials: J
authors.lastname: Traeger-Synodinos
mesh_terms: D000328:Adult; D000740:Anemia; D002648:Child; D005260:Female; D006115:Greece; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006461:Hemolysis; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion; D013163:Splenomegaly; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D006455:Hemoglobins, Abnormal; C531464:hemoglobin Heraklion