Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense m...

Eight thousand seven hundred and thirty-six pregnant women were screened for thalassemia and hemoglobinopathies by mean corpuscular volume less than 80 femtolitres (fl). Three thousand six hundred and seventy women (42%) were MCV less than 80 fl. In this group there were 2,390 women (70%) who had positive Hb typing by high performance liquid chromatography (HPLC) such as beta-thalassemia major,...

background:   objective: to determine pregnancy outcome of women with β-thalassemia minor.   materials and methods: in this retrospective, case-control study in two universities affiliated hospitals in shiraz, all pregnancies occurred between 2006 and 2008 were included. patients were divided in two groups regarding the presence of β-thalassemia minor. patients in case and control groups were m...

background: thalassemia is the most common monogenic disease in south-east of iran. despite the 70% reduction in iranian thalassemia cases after thalassemia control comprehensive program, 601 affected babies were born in sistan and balouchistan province, iran from 2002 to 2010, so this study aims at investigating the causes of new thalassemia cases. methods: data from this retrospective cross-s...

We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA(2) values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequencing because all of these were partners of a carrier of classical beta-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (2...

amelogenesis imperfecta is a group of genetic disorders that affects both the morphology and quality of tooth structure. although the disease entity is primarily associated with abnormalities of dental and oral structures, it has been reported to be associated with a few syndromes. a 9-year-old girl with minor thalassemia referred to the department of pediatric dentistry of the mashhad faculty ...

In Ontario, Canada, beta-thalassemia is easily detected through measurement of hemoglobin A2, but most laboratories do not do exhaustive DNA investigations for alpha-thalassemia. Therefore, the prevalence of thalassemia in microcytic samples for hemoglobinopathy investigation in Ontario is unknown. To address this, we performed a prospective cohort study in which samples referred for hemoglobin...

Beta thalassemia is an autosomal recessive disorder characterized by reduced (beta(+)) or absent (beta(0)) beta-globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the beta-thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 beta-globin chromosomes from ...

One of the genetic features of the Sardinian population is the high prevalence of hemoglobin disorders. It has been estimated that 13% to 33% of Sardinians carry a mutant allele of the alpha-globin gene (alpha-thalassemia trait) and that 6% to 17% are beta-thalassemia carriers. In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of beta-thalassemia cas...

P50 and 2,3 DPG content of erythrocytes were determined in 25 patients with heterozygous beta thalassemia minor to assess the adaptive mechanisms to anemia. 2,3 DPG levels were appropriately elevated for the degree of anemia. However, P50 values were not proportionately increased. No correlations were noted between hemoglobin level, 2,3 DPG, or P50 and the presence of symptomatic complaints of ...