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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: papassotiriou i. Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5. Hemoglobin. 2015. PMID: 25476779
Tissue oxygenation in patients with hemoglobinopathy H.
Papassotiriou I, Kanavakis E, Stamoulakatou A, Kattamis C. Papassotiriou I, et al. Pediatr Hematol Oncol. 1997 Jul-Aug;14(4):323-34. doi: 10.3109/08880019709041592. Pediatr Hematol Oncol. 1997. PMID: 9211537
283 results