Genetic mutations that block aor b-globin gene expression in humans can result in severe and frequently lethal thalassemic phenotypes. Homozygous inactivation of the endogenous aor b-globin genes in mice results in corresponding thalassemic syndromes that are uniformly fatal in utero. In the current study, we show that the viability of these mice can be rescued by expression of human embryonic ...

The thalassemias are a heterogeneous group of disorders characterized by accumulation either of unmatched alpha or beta globin chains. These in turn cause the intramedullary and peripheral hemolysis that leads to varying anemia. A partial explanation for the hemolysis came our of our studies on material properties that showed that beta-thalassemia (beta-thal) intermedia ghosts were very rigid b...

Background: Approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. This study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia. Methods: Fifteen compound heterozygous sickle cell thalassemia (SCT) and 23 β-thalassemia trait patients were st...

Genetic mutations that block aor b-globin gene expression in humans can result in severe and frequently lethal thalassemic phenotypes. Homozygous inactivation of the endogenous aor b-globin genes in mice results in corresponding thalassemic syndromes that are uniformly fatal in utero. In the current study, we show that the viability of these mice can be rescued by expression of human embryonic ...

BACKGROUND YKL-40 association with human disease has been the object of many years of investigation. β-thalassemia patients are affected by hepatic siderosis, which determines a fibrotic process and tissue remodelling. Chitotriosidase has been found to be increased in thalassemic patients returning to normal in patients submitted to bone marrow transplantation. YKL-40 is associated with macroph...

thalassemia is the most prevalent genetic disorder in iran and around the world and these patients need regular careful care. the present study reports results of routine examination of patients visited thalassemia clinic of tehran. data about clinical and laboratory examinations of 413 thalassemic were extracted and analyzed. the prevalence of heart complications, diabetes, growth retardation,...

BACKGROUND Thalassemia major and its treatment by stem cell transplantation can have deleterious effects on bone integrity. This study assesses the adverse effects of transplantation on growing bones of pediatric thalassemic patients. METHODS Bone mineral density (BMD) of 20 patients from three thalassemia classes whose mean (SD) age was 7.4 (3.8) years were tested with a Norland XR-46 device...

The DAT is performed for the detection of antibody or complement on the surface of RBCs. Our institution previously performed DATs on all chronically transfused thalassemia patients before each transfusion episode to detect early alloimmunization. The medical records of all thalassemia patients treated at our institution from 2004 to 2007 were reviewed to determine the significance of the high ...