منابع مشابه
b-Thalassemia Intermedia: A Clinical Perspective
Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with b-thalassemia intermedia has substantially increased over the past decade. Earlier studies observed that patients with b-thalassemia intermedia experience a clinical-complications profile that is different from that in patients with b-thalassemia major. In this article, a variety...
متن کاملThalassemia intermedia.
Thalassemia intermedia is a clinical definition applied to patients whose clinical phenotype is milder than that of thalassemia major. Criteria used to define thalassemia intermedia including age at presentation, hemoglobin or fetal hemoglobin levels and transfusion independence, are unsatisfactory. The possibility of typing the molecular defect allows a retrospective analysis of patients and o...
متن کاملThalassemia intermedia: revisited.
Thalassemia intermedia encompasses a wide clinical spectrum of beta-thalassemia phenotypes. Some thalassemia intermedia patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of clinical complications commonly associated with thalassemia intermedia are rarely seen in thalassemia major, including extramedullary hematopoiesis, leg ulce...
متن کاملThalassemia intermedia resulting from a mild beta-thalassemia mutation.
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 ...
متن کاملEndocrine Function in Thalassemia Intermedia
UNLABELLED Thalassemias are the most common genetic disorder on a wordwide basis. β-thalassemia is a severe hemolytic anemia which results from genetic defects in the synthesis of the hemoglobin β-chain. Various endocrine abnormalities have been described in patients with thalassemia major. Endocrine disturbances have also been observed in patients with thalassemia intermedia (TI). In this stud...
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ژورنال
عنوان ژورنال: Cold Spring Harbor Perspectives in Medicine
سال: 2012
ISSN: 2157-1422
DOI: 10.1101/cshperspect.a013482