β-thalassemias are caused by nearly 300 mutations of the β-globin gene, leading to a low or absent production of adult hemoglobin (HbA). Two major therapeutic approaches have recently been proposed: gene therapy and induction of fetal hemoglobin (HbF) with the objective of achieving clinically relevant levels of Hbs. The objective of this article is to describe the development of therapeutic st...

Most studies of analytical interference indicate the magnitude but not the type of interference. We developed a model for interference that assesses the magnitude of the following types of interference: independent of analyte concentration, dependent on analyte concentration, and a combination of the two. The experimental design for the model is an orthogonally arranged matrix with progressivel...

conclusions according to the results, hearing impairment in high frequency sounds was more common in the diabetics than the healthy individuals. also, the severity of hearing loss in patients with diabetes was associated with the levels of creatinine (diabetic nephropathy). the hypothesis of the relationship between diabetes and hearing loss through nephropathy should be more examined in future...

BACKGROUND AND PURPOSE Apoptotic-like pathways may contribute to brain cell death after intracerebral hemorrhage. In this study, we used a simplified in vitro model of hemoglobin neurotoxicity to map the caspase cascades involved and to document the role of oxidative stress. METHODS Primary neuronal cultures were obtained from rat cerebral cortex and exposed to hemoglobin to induce cell death...

The hypothesis that the combination of a ligand with hemoglobin is associated with changes in the conformation of the molecule (l-3) is at present substantiated by considerable evidence (summarized by Rossi Fanelli, Antonini, and Caputo (4), and by Benesch and Benesch (5). It is, however, generally assumed that the changes in conformation which take place on combination with a ligand are indepe...

At four positions within the native globin molecule heme may combine to give a protein, capable of reversible combination with oxygen (1, 2) and identical with hemoglobin (3, 4). As many as thirty hemes may react with denatured globin, but the product cannot be reversibly oxygenated. Many other nitrogen-containing compounds combine with reduced hematin to form hemochromogens, but none of these ...

By WOLF W. ZUELZER, ABNER R. ROBINSON AND CLIFFORD R. Booian T HE EXISTENCE of more than one kind of gene capable of producing the stigmata of thalassemia was first suggested’ as a possible explanation for the surprisingly wide spectrum of hematologic phenotypes observed in syndromes thought to result from the combination of a gene for thalassemia with a gene for one of the abnormal hemoglobins...

Sickle cell disease is characterized by a structural abnormality in the beta-globin chain of the hemoglobin molecule within the red blood cells (RBCs). The sickle mutation is a single base change (GAT → GTT) in the sixth codon of exon-1 of the betaglobin gene on chromosome 11. This change leads to the synthesis of the beta-globin polypeptide of the hemoglobin molecule. This mutation causes the ...

A 14 year male adolescent born of 2nd degree consanguineous marriage presented with asymptomatic proteinuria and severe anemia. He had leucopenia, anisopoikilocytosis, megaloblastic erythropoiesis, megakaryocytes with low serum B12 level. His younger sibling was similarly affected. This combination suggested Imerslund-Grasbeck syndrome. The hemoglobin levels improved with injection of vitamin B...

The denaturation of hemoglobin by salicylate in neutral solution is completely reversible. There is a mobile equilibrium between native and denatured hemoglobin in neutral salicylate solution. The higher the salicylate concentration the greater is the percentage denaturation. When there is a mobile equilibrium between the native and denatured forms of a protein, denaturation is caused by the ad...