Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. Copyright © Informa Healthcare USA, Inc.
Συγγραφείς:
Douna, V.
Papassotiriou, I.
Metaxotou-Mavrommati, A.
Stamoulakatou, A.
Liapi, D.
Kampourakis, D.
Tsilimigaki, A.
Kanavakis, E.
Traeger-Synodinos, J.
Περιοδικό:
Hemoglobin: Interrnational Journal for Hemoglobin Research
Λέξεις-κλειδιά:
alpha globin; hemoglobin; hemoglobin Heraklion; hemoglobin variant, adult; alpha thalassemia; anemia; article; blood chemistry; case report; clinical evaluation; codon; DNA determination; female; follow up; gene deletion; gene mutation; Greece; hemolysis; human; male; school child; splenomegaly, Adult; alpha-Thalassemia; Anemia; Child; Female; Greece; Hemoglobins, Abnormal; Hemolysis; Humans; Male; Mutation; Phenotype; Sequence Deletion; Splenomegaly
DOI:
10.1080/03630260802174021
