Search results for "Globin gene"
showing 3 items of 3 documents
Facilitated Oxygen Transport
2010
The amount of dioxygen an organism needs for aerobic metabolism depends on many factors, size and activity being the most important. However, as an approximate figure, we may say that a typical higher eukaryote will utilize about 3.5 ml dioxygen kg−1 body weight per minute. This must reach the tissues where active metabolism is occurring and be maintained there at a steady-state pressure of approximately 2 Torr. This will assure a sufficient rate of delivery to mitochondria and allow continued utilization therein for oxidative reactions (see Chap. 4). The problem faced by the organism is how to assure sufficient delivery to all the tissues, even those buried deep in the body, sometimes whil…
Nonsense-mediated decay mechanism is a possible modifying factor of clinical outcome in nonsense cd39 beta thalassemia genotype
2012
Nonsense-mediated mRNA decay (NMD) is a surveillance system to prevent the synthesis of non-functional proteins. In β-thalassemia, NMD may have a role in clinical outcome. An example of premature translation stop codons appearing for the first time is the β-globin cd39 mutation; when homozygous, this results in a severe phenotype. The aim of this study was to determine whether the homozygous nonsense cd39 may have a milder phenotype in comparison with IVS1,nt110/cd39 genotype. Genotypes have been identified from a cohort of 568 patients affected by β-thalassemia. These genotypes were compared with those found in 577 affected fetuses detected among 2292 prenatal diagnoses. The…
A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era
2023
Thalassemia is a Mendelian inherited blood disease caused by α- and β-globin gene mutations, known as one of the major health problems of Mediterranean populations. Here, we examined the distribution of α- and β-globin gene defects in the Trapani province population. A total of 2,401 individuals from Trapani province were enrolled from January 2007 to December 2021, and routine methodologies were used for detecting the α- and β-globin genic variants. Appropriate analysis was also performed. Eight mutations in the α globin gene showed the highest frequency in the sample studied; three of these genetic variants represented the 94% of the total α-th…