An analysis of genotype-phenotype correlation was performed for 14 patients with beta-thalassemia who had been registered in Referral Centre for hematology and oncology of the University Hospital Centre, Zagreb, Croatia. HBB gene mutations were determined using a gene-specific Q5 High-Fidelity PCR analysis with direct DNA sequencing of amplified transcripts. Mahidol score index used for classification of thalassemia severity was found to be low for all the patients enrolled in the study, indicating a mild β-thalassemia phenotype with no signs of disease progression. Most of the patients have already described gene mutations: IVS-II-666 C>T (HBB:c.316-185C>T) and IVS-II-16 G>C (HBB:c.315+16G>C). Each of the aforementioned mutations was found in (11/14; 78,57%) and (10/14; 71,43%) of our patients, respectively. Recently published HBB:c.9T>C mutation was found in 8 of 14 (57,14%) in our study group. IVSII-74 T>G (HBB:c.315+74T>G) is a worldwide mutation found in 6 of 14 (42.86%) of our patients. All these mutations occur among Croatian children with no obvious Indian/Near Eastern/Iranian ancestry. We also identified 7 de novo mutations (c.316-135het_dupT, c.316-133A>G, c.93-54G>A, c.316-68_316-67het_insCGG, c.316-342delA, c.316-312delT, c.316-209delT) of mild severity phenotype according to Mahidol classification score index. We did not find children or adults with thalassemia major severity phenotype.
Fenilketonurija je najčešća urođena greška u metabolizmu aminokiselina. Nastaje zbog nemogućnosti pretvorbe esencijalne aminokiseline fenilalanina u tirozin, najčešće zbog nedovoljne produkcije ili potpunog nedostatka enzima fenilalaninhidroksilaze uslijed mutacije njenog gena. U većini razvijenih zemalja pa tako i u Republici Hrvatskoj otkriva se obaveznim novorođenačkim probirom. Liječenje se provodi strogo reguliranom doživotnom niskoproteinskom dijetoterapijom. U radu je prikazan slučaj jednogodišnje djevojčice s fenilketonurijom koja je dobro regulirana.
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