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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: stamoulakatou a. Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5. Hemoglobin. 2015. PMID: 25476779
Interaction of an alpha(+)-thalassemia deletion with either a highly unstable alpha-globin variant (alpha2, codon 59, GGC-->GAC) or a nondeletional alpha-thalassemia mutation (AATAAA-->AATAAG): comparison of phenotypes illustrating "dominant" alpha-thalassemia.
Traeger-Synodinos J, Metaxotou-Mavrommati A, Karagiorga M, Vrettou C, Papassotiriou I, Stamoulakatou A, Kanavakis E. Traeger-Synodinos J, et al. Among authors: stamoulakatou a. Hemoglobin. 1999 Nov;23(4):325-37. doi: 10.3109/03630269909090748. Hemoglobin. 1999. PMID: 10569721
Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management.
Stamoulakatou A, Athanasiou-Metaxa M, Traeger-Synodinos J, Lazaropoulou C, Harteveld K, Premetis E, Tsantali H, Zorai A, Giordano P, Papassotiriou I, Kanavakis E. Stamoulakatou A, et al. Blood Cells Mol Dis. 2004 Jan-Feb;32(1):118-23. doi: 10.1016/j.bcmd.2003.10.009. Blood Cells Mol Dis. 2004. PMID: 14757425
A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes.
Kanavakis E, Traeger-Synodinos J, Lafioniatis S, Lazaropoulou C, Liakopoulou T, Paleologos G, Metaxotou-Mavrommati A, Stamoulakatou A, Papassotiriou I. Kanavakis E, et al. Among authors: stamoulakatou a. Blood Cells Mol Dis. 2004 Mar-Apr;32(2):319-24. doi: 10.1016/j.bcmd.2003.12.005. Blood Cells Mol Dis. 2004. PMID: 15003825
47 results