Pujades Ma

TL;DR: Oxidative damage to erythrocytes in thalassaemia has been related to generation of free radicals by an excess of denaturated α‐ or β‐globin chains, intracellular iron overload and low concentration of normal haemoglobin.

TL;DR: The molecular characteristics of G6PD in the patient differed from those of all previously reported variants associated with CNSHA, so the present variant was provisionally called G 6PD Barcelona to distinguish it from other G6 PD variants previously described.

TL;DR: The G6PD gene in 11 unrelated Spanish G6 PD‐deficient males and their relatives is analysed by using the polymerase chain reaction and single‐strand conformation polymorphism (PCR‐SSCP) analysis combined with a direct PCR‐sequencing procedure and PCR‐restriction enzyme (RE) analysis.

TL;DR: The activity of 18 red blood cell enzymes and reduced glutathione (GSH) content were measured in 70 normal subjects, in 50 heterozygous β‐thalassaemia carriers and in 50 non‐thalASSaemic patients with haemolytic anaemia and high reticulocyte counts.

TL;DR: It is concluded that the finding of the Spanish type of (delta beta)zero-thalassemia in all the patients studied here suggests Spain as the most probable origin of this thalassemic phenotype.