نتایج جستجو برای: dependent thalassemia major
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We investigated the molecular basis for a mild phenotype in a group of patients with beta(+) thalassemia originating from Northern Sardinia by definition of the beta-thalassemia mutation, alpha-globin mapping and beta-globin haplotype determination. In nine patients, we detected the compound heterozygous state for the -87 promoter mutation and the codon 39 nonsense mutation; in one patient, we ...
Prevalence of β-thalassemia is high amongst the genetic disorders of hemoglobin synthesis. Frequency of β-thalassemia trait is about 5-6% in Pakistan. β-thalassemia major is characterized by severe hemolytic anemia that requires regular blood transfusion. Life expectancy of these patients is strikingly prolonged with repeated blood transfusion and iron chelation therapy but consequences associa...
abstract introduction major ß thalassemia represents a group of recessively inherited hemoglobin disorder, which is characterized by reduced synthesis of globins chains. frequent blood transfusions can lead to iron overload, which may result in several endocrine complication especially in the absence of adequate chelating therapy. the objective of this study were to determine the prevalence of ...
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