Correlation of BACH1 and HbE/Beta-Thalassemia Globin Expression.
Kuala Selangor, Malaysia. In Turk J Haematol, Sep 2015
OBJECTIVE: The diverse clinical phenotype of HbE/β-thalassemia has not only confounded clinicians in matters of patient management but has also led scientists to investigate the complex mechanisms involved in maintaining the delicate red cell environment where, even with apparent similarities of α- and β-globin genotypes, the phenotype tells a different story.
Adaptation to anemia in hemoglobin E-ß thalassemia.
Oxford, United Kingdom. In Blood, 2011
patients with hemoglobin Ebeta thalassemia have a significant decrease in the oxygen affinity of their hemoglobin, that is an increased P(50) value, in response to anemia.
Interaction of hemoglobin E with other abnormal hemoglobins.
Vellore, India. In Acta Haematol, 2010
investigation of interaction of HbE w/ other abnormal hemoglobins found in India isolated by cation exchange chromatography; interactions complicate Hb isolation and thus diagnosis of hemoglobinopathies/beta-thalassemias in heterozygous patients
Mechanisms of genetically-based resistance to malaria.
Bogotá, Colombia. In Gene, 2010
Some of the mechanisms underlying protection against this disease are described in this review for hemoglobin-inherited disorders (thalassemia, sickle-cell trait, HbC and HbE), erythrocyte polymorphisms (ovalocytosis and Duffy blood group), enzymopathies (G6PD deficiency and PK deficiency) and immunogenetic variants (HLA alleles, complement receptor 1, NOS2, tumor necrosis factor-α promoter and chromosome 5q31-q33 polymorphisms).
Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders.
Memphis, United States. In Hematology Am Soc Hematol Educ Program, 2008
A clinical gene transfer trial for beta-thalassemia has begun in France, and one patient with transfusion-dependent HbE/beta-thalassemia has demonstrated a therapeutic effect after transplantation with autologous CD34(+) cells genetically modified with a beta-globin lentiviral vector.
Genetic modifiers in hemoglobinopathies.
Jerusalem, Israel. In Curr Mol Med, 2008
In thalassemia (or in HbE/thalassemia), genetic variation is primarily caused by the severity of the thalassemia mutation.
Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies.
Rotterdam, Netherlands. In Hum Mutat, 2005
Over 1,200 different genetic alterations that affect the DNA sequence of the human alpha-like (HBZ, HBA2, HBA1, and HBQ1) and beta-like (HBE1, HBG2, HBG1, HBD, and HBB) globin genes are mainly responsible for the observed clinical heterogeneity.