منابع مشابه
Thalassemia 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 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 کاملBeta-thalassemia intermedia associated with moyamoya syndrome.
Moyamoya syndrome (MMS) is a progressive disorder. We report a 19-year-old boy with beta-thalassemia who presented with a left hemiparesis. Brain MRI showed old middle cerebral artery and left frontal subcortical white matter infarcts. Brain magnetic resonance angiography and digital subtraction angiography revealed occlusion of the bilateral internal carotid arteries with a rich network of bas...
متن کاملMalignancies in patients with beta-thalassemia major and beta-thalassemia intermedia: a multicenter study in Iran.
BACKGROUND Beta thalassemia is one of the most common genetic disorders in the world. The aim of this study was to determine the frequency, characteristics, and pattern of malignancies in patients with beta thalassemia major (BTM) and beta thalassemia intermedia (BTI) in Iran. METHODS We conducted a multicenter study via a retrospective chart review of patients with BTM and BTI between 2002 a...
متن کاملThalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype-phenotype correlation will provide a better insight for the development of molecular therapy.
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ژورنال
عنوان ژورنال: Blood
سال: 1989
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v73.2.601.bloodjournal732601