Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied 41 patients with beta-thalassaemia major and their parents by using a combination of polymerase chain reaction (PCR) amplification, slot-blot hybridization of allele-specific oligonucleotide (ASO), and direct genomic sequencing. Eight different point mutations were characterized. C to T substitution at nucleotide (nt) 654 of intervening sequences (IVS) 2, accounting for 46.3% of mutant beta-globin genes, is the most common mutation in Taiwan, followed by frameshift codons 41/42 with four nucleotides (TCTT) deletion for 31.7%, A to G substitution at position -28 of promotor area for 8.5%, A to T substitution at codon 17 for 6.1%, frameshift codons 27/28 (insertion of C) for 2.4%, G to T substitution at nucleotide 1 of IVS-1 for 2.4%, frameshift codons 71/72 (insertion of A) and IVS-1 3 end TAG-->GAG for 1.2%. The former four mutations showed no obvious difference between two major ethnic groups in Taiwan. As to mutations in each individual of beta-thalassaemia major, the incidence of compound heterozygotes of two different mutations is much higher than homozygotes of single mutation, 78.0% v 22.0%. Compound heterozygotes of C to T substitution at nt 654 of IVS-2 and frameshift codons 41/42 with four nucleotides deletion is the most common pattern of beta-thalassaemia mutations in each individual (41.5%). The results are somewhat different from other documented reports concerning the mutations of beta-thalassaemia in southern China. This is the first report of mutation of IVS-1 3' end TAG-->GAG which causes consensus change in Chinese people. Patients with heterozygotes of beta zero and -28 beta(+)-thalassaemia mutations would have a greater delay in initial transfusion in comparison to patients with homozygotes of both beta zero-thalassaemia mutation, but their initial clinical manifestation might be aggravated when combined with a glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and an insult such as exposure to infection and certain drugs.
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PMID:Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient. 843 18

A countrywide prospective study aimed at establishing the prevalence of the haemoglobinopathy genes in the Portuguese population was carried out by screening 15,208 randomly selected blood samples from young males. This male based survey provided the opportunity of assessing simultaneously the prevalence of the red cell enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency, thus giving a picture of these important hereditary anaemias in Portugal. The results showed a low average frequency of beta thalassaemia (0.45%) and haemoglobin S (0.32%) carriers as well as G6PD deficiency (0.51%). However, these disorders are unevenly distributed throughout the country with a higher prevalence in some areas, mainly in the south. The relationship of this pattern of haemoglobinopathies to the known haplotypes linked to beta thalassaemia and sickle cell disease, relevant historical events, and local selective pressure was investigated. Hb D and Hb J are the commonest other structural variants. The implemented programme for control of these hereditary anaemias is described.
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PMID:Hereditary anaemias in Portugal: epidemiology, public health significance, and control. 847 8

The Jews of Kurdistan are a small inbred population with a high incidence of beta-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Recently, it was reported that the beta-thalassaemia in this population shows an unusual mutational diversity; 13 different mutations were identified, of which 4 had not previously been observed in any other population. In contrast, we now report that the G6PD deficiency, which has the highest known incidence in the world, and which affects about 70% of males, is almost entirely attributable to a single widespread mutation, G6PD Mediterranean.
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PMID:G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews. 847 15

Thalassemia hemoglobinopathies and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency are prevalent in Thailand. We studied the prevalence of these disorders from 1,000 cord bloods collected during 14 months period, using EDTA as anticoagulant. Red blood cell G-6-PD quantitative assay was performed in all male subjects. Nine hundred and eighty five specimens were available for hemoglobin (Hb) typing by starch gel electrophoresis. Further evaluation by cellulose acetate electrophoresis and follow up were made in the cases who had Hb E and/or high level of Hb Bart's. It was found that out of 505 males, 61 cases (12.08%) had G-6-PD deficiency. Among 985 cases studied for Hb typing, 61.92% revealed normal Hb type AF while Hb E was present in 18.68% and Hb Bart's designated alpha-thalassemias were present in 25.18% respectively. Of these 985 cases, 18.78% had low Hb Bart's level ie detectable to 8.2% consistent with alpha-thal2, Hb Constant Spring (CS) or alpha-thal1 trait. Ten cases (1.02%) had high levels of Hb Bart's ranging from 16.1-35% without or with Hb CS and E, and further follow-up revealed homozygous Hb CS, Hb A-E-Bart's, Hb H and Hb H with Hb CS disease. The other 53 cases (5.38%) had low level of Hb Bart's with Hb E consistent with alpha-thalassemia trait with Hb E trait. There were 127 cases (12.89%) who had only Hb E trait and 3 cases (0.3%) who had Hb F and E without Hb A initially.
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PMID:Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1,000 cord bloods studied in Bangkok. 862 22

A hospital-based survey was undertaken to investigate the relationship between the incidence and severity of malaria infection and various red cell disorders in Myanmar. The mean parasitaemia levels of patients with alpha- or beta-thalassaemia trait or with severe glucose-6-phosphate dehydrogenase (G6PD) deficiency were lower than those of individuals with normal haemoglobin AA or with heterozygous haemoglobin E. The double genetic defect of thalassaemia trait and severe G6PD deficiency appeared to confer some degree of protection against malaria.
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PMID:Genetic red cell disorders and severity of falciparum malaria in Myanmar. 884 92

Twenty subjects--patients with anemia and their close relatives representing 7 families, were tested for thalassemia. Heterozygotic beta-thalassemia was detected in 17 cases. The national composition of this patient population was as follows: 7 Pathans (Afghanistan), 1 family; 2 Armenians (Georgia), mother and son; 2 Tajiks, sibs; 2 patients of mixed Russian-Ukrainian-Polish-Azerbaijan origin, mother and son; 1 Russian-Arab child and his Arab father (Syria); 1 Uzbek woman and 1 Russian child. The mean content of Hb in the blood for patients with heterozygotic beta-thalassemia is 110 +/- 3.8 g/liter, that of HbA2 fraction 4.8 +/- 0.26% and of HbF fraction 2.6 +/- 0.39%. Clinical manifestations of the disease varied, being more grave in children than in adults. In an Armenian family from Batumi thalassemia minor was diagnosed in the mother and son, whereas in the father and other son a periodic disease was revealed. In a family of 7 members from Afghanistan thalassemia minor was found in 4 representing the paternal line, minimal thalassemia was suspected in 3, and a deficiency of glucose-6-phosphate dehydrogenase in red blood cells was revealed in 5: in the mother and 4 children. No increase of methemoglobin level was revealed in either of the examinees.
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PMID:[Beta-thalassemia and glucose-6-phosphate dehydrogenase deficiency]. 904 21

Our purpose was to determine the frequency of the thalassemia trait and glucose-6-phosphate dehydrogenase (G6PD) deficiency in blood donors of Madrid, composed of persons from nearly all the Spanish provinces (ranging from 21 to 65 years of age). The frequency of thalassemia and G6PD deficiency has been investigated with the following results; thalassemia 0.92% and no G6PD deficiency. The frequencies observed are compared with those found in the general (non donor) Spanish population. The value of this experiment is considered a supplement to other tests done routinely in our official blood donors.
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PMID:Thalassemia and G6PD deficiency in Spanish blood donors. 936 Apr 23

Hemoglobinopathy and allied hemolytic disorders are important genetic and public health problems in Orissa. These cause high degree of hemolytic anemia, morbidity and mortality in the vulnerable populations. A total of 465 Ashram School children aged 6-15 years belonging to Bathudi, Bhumiz, Kolha and Santal tribes in six localities of Mayurbhanj district of Orissa were screened for hemoglobinopathy, glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, ABO and Rhesus blood groups serology and any other hereditary condition. The sickle cell trait (Hb AS) was detected in Santal (1.0%), Bathudi (1.0%) and Bhumiz (0.9%) tribals. No case of homozygous sickle cell disease was detected among the tribes of Mayurbhanj district. The beta-thalassemia trait was detected in Santal (8.0%), Kolha (2.0%), Bhumiz (1.7%) and other tribal (3.8%) students. Sickle cell hemoglobinopathy and beta-thalassemia are prevalent in this district among the tribes, but the frequency is very low. The prevalence of G-6-PD deficiency is considerably high (7.7-9.8%) among the tribes of Mayurbhanj district in Orissa. Out of total 43 G-6-PD deficient subjects, there were 32 males, 9 heterozygote females and 2 homozygous females. This shows that the antimalarial drugs should be administered with caution as these cause hemolytic anemia, sometimes fatal also. The distribution of ABO and Rhesus blood groups shows the preponderance of B blood group (33.8%) over O (29.6%) and 2.1% cases of Rhesus negativity were detected among the Bathudi tribe. This pattern is consistent with the characteristic features of tribal populations in India.
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PMID:Hereditary hemolytic disorders among the Ashram school children in Mayurbhanj district of Orissa. 1077 94

Anemia in beta-thalassemia is caused by a combination of ineffective erythropoiesis and premature hemolysis of RBC in the peripheral circulation. Excess of the alpha-globin chain present in beta-thalassemic RBC is mainly responsible for oxidative damage of erythrocyte membrane protein. The activities of glucose-6-phosphate dehydrogenase, glutathione reductase, glutathione peroxidase, and glutathione-S-transferase, and the catalytic activity of catalase and superoxide dismutase, and the concentrations of non-enzymic antioxidants such as reduced glutathione were measured to estimate the status of the antioxidant defense system in the erythrocytes for protection against oxidative stress. The extent of lipid peroxidation was also estimated in thalassemic erythrocytes. Significantly lower activities of reduced glutathione indicate the cell to be in a pro-oxidant state and decreased activity of catalase favors hydrogen peroxide-mediated lipid peroxidation in beta-thalassemic and Ebeta-thalassemic RBC.
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PMID:Antioxidant defense status of red blood cells of patients with beta-thalassemia and Ebeta-thalassemia. 1124 31

Erythrocyte diseases such as sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency decrease the erythrocyte life span, an effect contributing to anemia. Most recently, erythro-cytes have been shown to undergo apoptosis upon increase of cytosolic Ca(2+) activity. The present study has been performed to explore whether sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency enhance the sensitivity of erythrocytes to osmotic shock, oxidative stress or energy depletion, all maneuvers known to increase cytosolic Ca(2+) activity. To this end, annexin binding as an indicator of apoptosis has been determined by FACS analysis. Erythrocytes from healthy individuals, from patients with sickle cell anemia, thalassemia or glucose-6-phosphate dehydrogenase deficiency all responded to osmotic shock (up to 950 mOsm by addition of sucrose for 24 hours), to oxidative stress (up to 1.0 mM tetra-butyl-hydroxyperoxide tBOOH) and to energy depletion (up to 48 hours glucose deprivation) with enhanced annexin binding. However, the sensitivity of sickle cells and of glucose-6-phosphate dehydrogenase deficient cells to osmotic shock and of sickle cells, thalassemic cells and glucose-6-phosphate dehydrogenase deficient cells to oxidative stress and to glucose depletion was significantly higher than that of control cells. Annexin binding was further stimulated by Ca(2+) ionophore ionomycin with significantly higher sensitivity of sickle cells and glucose-6-phosphate dehydrogenase deficient cells as compared to intact cells. In conclusion, sickle cells, thalassemic cells and glucose-6-phosphate dehydrogenase deficient erythrocytes are more sensitive to osmotic shock, oxidative stress and/or energy depletion, thus leading to enhanced apoptosis of those cells. The accelerated apoptosis then contributes to the shortened life span of the defective erythrocytes.
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PMID:Enhanced erythrocyte apoptosis in sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency. 1243 73


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