We report a novel β+-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the β-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3.96%). The expression of the mutated β allele was inferred by luciferase reporter assay in K562 cells...

We studied the nature of enucleated RBCs containing DNA remnants, Howell-Jolly (HJ) RBCs and reticulocytes (retics), that are characteristically present in the circulation of thalassemic patients, especially after splenectomy. Using flow cytometry methodology, we measured oxidative status parameters of these cells in patients with β-thalassemia. In each patient studied, these cells had higher c...

abstract background the purpose of this study was to assess the prevalence of major depressive and anxiety disorders in hemophilic and major beta thalassemic patients related to education of their mothers as a family’s agent. materials and methods a case-control study was performed on 34 major beta thalassemic patients. for each patient the control group was selected and matched (with age and s...

Thromb Haemost 2008; 100: 735 Thalassemia is the most common form of congenital hemolytic anemia caused by partial or complete deficiency in one of the major α or β proteins of haemoglobin A (1). Improvement of the standard care of homozygous patients, with almost doubling of their life expectancy, unveiled a higher incidence of additional complications which have not been previously recognized...

Thalassemia screening in pregnant women and their spouses was performed at Buddhachinaraj Provincial Hospital and 8 community hospitals in Phitsanulok; lower northern Thailand. The prevalence of thalassemic carrier state was determined of 1,198 couples. Of these, 4.8% had heterozygous alpha thalassemia-1, 1.6% had heterozygous beta thalassemia, 12.4% had heterozygous hemoglobin (Hb) E, 2.7% had...

Homozygous 8 thalassemic mice received 50 U (1,660 U/kg) of recombinant human erythropoietin (rhEpo) 5 days a week for 2 weeks. Hemoglobin increased from 9.2 2 0.6 g/dL to 10.5 f 0.4 g/dL (P = .002) and hematocrit increased from 29.2% f 0.9% to 34.1% f 1.9% (P = .0014). The p minor/a globin chain synthesis ratio increased slightly but significantly between day -4 (0.75 f 0.07) and day 4 (0.81 f...