Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0162316 (iron deficiency anemia)
 3,806 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oxidative damage to erythrocytes in thalassaemia has been related to generation of free radicals by an excess of denaturated alpha- or beta-globin chains, intracellular iron overload and low concentration of normal haemoglobin (HGB). Two good indicators of such oxidative damage are the high red blood cell (RBC) malonyldialdehyde (MDA) production detected following exogenous oxidant stress and the decrease of pyrimidine 5'-nucleotidase (P5N), the most sensitive enzyme to SH-group damage in vivo. Conflicting data, however, have so far accumulated in the literature concerning differences in oxidative damage between the different forms of thalassaemia and iron deficiency anaemia (IDA). In the present study, oxidative susceptibility, as defined by the production of MDA in vitro and antioxidant capacity, as measured by the activity of RBC glutathione peroxidase (GPx), superoxide dismutase (SOD) and by reduced glutathione (GSH), have been studied in microcytic RBCs from patients with beta-thalassaemia trait, Spanish (delta beta) zero-thalassaemia heterozygotes (delta beta-thalassaemia trait) and iron deficiency anaemia (IDA). The results are consistent with the existence of significant differences in the severity and pattern of oxidative stress susceptibility between beta-thalassaemia trait (increased MDA production and higher SOD and GPx activities) and the other two forms of microcytosis (delta beta thalassaemia trait and IDA). Furthermore, the finding of normal P5' N activity in delta beta thalassaemia trait, gives further support to the less intense peroxidative environment of RBCs in this form of thalassaemia when compared to beta-thalassaemia trait, characterized by acquired RBC P5' N deficiency due to oxidative damage.
 ...
PMID:Increased susceptibility of microcytic red blood cells to in vitro oxidative stress. 749 80

Hemoglobin A2 levels in members of an African American family with -88 C-->T beta(+)-thalassemia were measured, and two patients in whom iron deficiency anemia developed were evaluated during treatment. Iron deficiency may diminish the level of HbA2 in healthy control subjects and in patients with heterozygous beta-thalassemia; in addition, it may reduce the amount of variant hemoglobin in certain hemoglobinopathies. Although iron deficiency appeared to be associated with a reduction in HbA2 quantity in the patient with heterozygous beta-thalassemia, the level of HbA2 did not fall below the range characteristic of beta-thalassemia. It had been proposed that mutations in the beta-globin gene promoter may be associated with higher-than-expected levels of HbA2. However, this "mild" beta-globin gene promoter mutation did not seem to result in HbA2 concentrations higher than anticipated in the heterozygous beta-thalassemias.
 ...
PMID:Case report: effects of iron deficiency and the -88 C-->T mutation on HbA2 levels in beta-thalassemia. 848 91

We report a 43-year-old Japanese woman with microcytic and hypochromic anemia, who had been erroneously diagnosed as having iron deficiency anemia 20 years previously at the time of her first labor, and treated with iron and blood transfusion. At the present visit to our clinic, she was found to have an increased HbA2 level and prolonged glycerol lysis time. Genetic analysis of the beta-globin gene revealed deletion of 3 bases at codons 127/128 (CAG/GCT-->CCT). A genetic study of the patient's family showed that two of her four children possessed the same mutation. The patient had mild anemia, her first son had very mild anemia, and her second daughter had moderate anemia with hemolysis. These affected family members were diagnosed as having dominant-phenotype beta-thalassemia.
 ...
PMID:[A family with dominant-phenotype Beta-thalassemia]. 1197 52