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Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.
Kattamis A, Delaporta P, Fylaktou I, Vrettou C, Kyriakopoulou D, Stamoulakatou A, Papassotiriou I, Kanavakis E, Traeger-Synodinos J. Kattamis A, et al. Among authors: kanavakis e. Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5. Hemoglobin. 2015. PMID: 25476779
Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family.
Papassotiriou I, Stamoulakatou A, Wajcman H, Kister J, Dimisianos G, Lazaropoulou C, Kanavaki I, Vavourakis E, Kattamis A, Kanavakis E, Traeger-Synodinos J. Papassotiriou I, et al. Among authors: kanavakis e. Hemoglobin. 2006;30(4):409-18. doi: 10.1080/03630260600867842. Hemoglobin. 2006. PMID: 16987796
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.
Douna V, Papassotiriou I, Metaxotou-Mavrommati A, Stamoulakatou A, Liapi D, Kampourakis D, Tsilimigaki A, Kanavakis E, Traeger-Synodinos J. Douna V, et al. Among authors: kanavakis e. Hemoglobin. 2008;32(4):379-85. doi: 10.1080/03630260802174021. Hemoglobin. 2008. PMID: 18654888
Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family.
Douna V, Papassotiriou I, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J. Douna V, et al. Among authors: kanavakis e. Hemoglobin. 2008;32(6):592-5. doi: 10.1080/03630260802507964. Hemoglobin. 2008. PMID: 19065338
276 results