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71.
Zimmermann MB Fucharoen S Winichagoon P Sirankapracha P Zeder C Gowachirapant S Judprasong K Tanno T Miller JL Hurrell RF 《The American journal of clinical nutrition》2008,88(4):1026-1031
BACKGROUND: Despite large populations carrying traits for thalassemia in countries implementing universal iron fortification, there are few data on the absorption and utilization of iron in these persons. OBJECTIVE: We aimed to determine whether iron absorption or utilization (or both) in women heterozygous for beta-thalassemia, alpha-thalassemia 1, or hemoglobin E (HbE) differed from that in control subjects and compound HbE/beta-thalassemia heterozygotes. DESIGN: In Thai women (n = 103), red blood cell indexes, iron status, non-transferrin-bound iron, and growth differentiation factor 15 were measured, and body iron was calculated. Fractional iron absorption was measured from meals fortified with isotopically labeled ((57)Fe) Fe sulfate, and iron utilization was measured by the infusion of ((58)Fe) Fe citrate. RESULTS: Iron utilization was approximately 15% lower in alpha-thalassemia 1 or beta-thalassemia heterozygotes than in controls. When corrected for differences in serum ferritin, absorption was significantly higher in the alpha- and beta-thalassemia groups, but not the HbE heterozygotes, than in controls. HbE/beta-thalassemia compound heterozygotes had lower iron utilization and higher iron absorption and body iron than did controls. Nontransferrin-bound iron and growth differentiation factor 15 were higher in the compound heterozygotes, but not in the other groups, than in the controls. CONCLUSIONS: In alpha-thalassemia 1 and beta-thalassemia heterozygotes with ineffective erythropoesis, dietary iron absorption is not adequately down-regulated, despite a modest increase in body iron stores. In populations with a high prevalence of these traits, a program of iron fortification could include monitoring for possible iron excess and for iron deficiency. 相似文献
72.
Ultrastructure and cell cycle distribution of erythropoietic cells in heterozygotes and homozygotes for haemoglobin E 总被引:1,自引:0,他引:1
S N Wickramasinghe M Hughes P Wasi S Fucharoen R A Litwinczuk 《British journal of haematology》1984,57(4):685-694
S ummary. Marrow aspirates from heterozygotes and homozygotes for haemoglobin E (HbE) have been studied by electron microscopy and by the technique of combined Feulgen microspectrophotometry and 3 H-thymidine autoradiography. The erythropoietic cells of heterozygotes did not contain any precipitated globin chains and the proliferating erythroblasts of such individuals showed no abnormality in their distribution in the different stages of interphase. By contrast, 0–1.5% of late erythroblast profiles and 3.1–12.8% of marrow reticulocyte profiles of homozygotes contained intracellular inclusions resembling precipitated α-chains. Although precipitated globin chains were not seen in the early polychromatic erythroblasts of homozygotes, the number of these cells in the G2 phase relative to that in the S phase was increased. These data indicate that there is (1) probably little or no imbalance of globin chain synthesis in heterozygotes, (2) a substantial degree of imbalance in homozygotes, and (3) a disturbance of erythroblast proliferation in homozygotes which cannot be attributed to the deleterious effects of detectable intracellular α-chain precipitates. The electron microscope and cell cycle distribution data in the homozygotes for HbE were similar to those in two heterozygotes for β thalassaemia. 相似文献
73.
Supan Fucharoen Kasama Ayukarn Kanokwan Sanchaisuriya Goonnapa Fucharoen 《European journal of haematology》2001,66(5):312-316
A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a beta-globin chain variant is reported in a 3-yr-old Thai girl. On routine cellulose acetate electrophoresis, one abnormal band in addition to the hemoglobins A, A2, H, Bart's and Constant Spring was detected. The amount of this abnormal band movement towards more anodic to the hemoglobin A was 35.7%. DNA analysis of the alpha-globin gene cluster by polymerase chain reaction (PCR) revealed a combination of defects caused by the SEA-type alpha-thalassemia 1 and the alpha-Constant Spring gene. Analysis of beta-globin gene by PCR and DNA sequencing also detected the heterozygosity for the GGC-GAC mutation at codon 56, leading to a substitution of aspartic acid for glycine resulting in the hemoglobin J Bangkok. The hematologic data of this unusual case of hemoglobin H disease are presented and compared with two compound heterozygotes for hemoglobin J Bangkok and alpha-thalassemia 1 found in the patient's father and grandfather. A simple DNA assay based on an allele-specific PCR for rapid diagnosis of the hemoglobin J Bangkok is also described. 相似文献
74.
Hb Q-Thailand [alpha 74(EF3)Asp-->His] is often found in Thailand, China, and other Southeast Asian countries. The alpha-Q-Thailand gene is strongly linked to an alpha gene deletion and has important implications in the identification and diagnosis of hemoglobinopathies and thalassemias. The alpha-Q-Thailand mutation was previously mapped to the alpha 1 gene in a study of Chinese patients. In this paper, a Thai patient with Hb Q-Thailand/Hb H disease and his mother were studied at the DNA level, and the gene organization of Hb Q-Thailand in the Thai patient was found to be the same as that of Chinese patients (i.e. the Hb Q-Thailand gene is located on the alpha 1 gene of chromosome #16, while the -4.2 kb or leftward deletion involves the alpha 2 gene). Also, the GAC-->CAC mutation proposed at codon 74, has been confirmed by DNA sequencing and a simple and accurate method for diagnosis of the Hb Q-Thailand variant has been developed based on restriction enzyme analysis. Since the GAC-->CAC mutation generates new cutting sites for both restriction enzymes Apa LI and Hgi AI, polymerase chain reaction amplification of a specific region around codon 74, followed by digestion with these enzymes and agarose gel electrophoresis of the digested products, permits rapid and accurate identification of Hb Q-Thailand. 相似文献
75.
Y Wangroongsarb B G Weniger C Wasi A Traisupa P Kunasol W Rojanapithayakorn S Fucharoen 《The Southeast Asian journal of tropical medicine and public health》1985,16(4):517-520
Antibody to the human T-lymphotropic virus, type III/lymphadenopathy-associated virus (HTLV-III/LAV) by ELISA test was detected in one (1%) of 101 male homosexual prostitutes (confidence limit 95%:0.03-5.4%, in two (2%) of 100 thalassemia patients, and in none (C.L. 95%:0-3.6%) of 100 female prostitutes, 99 parenteral drug abusers, 100 male VD patients, 100 consecutive blood donors in serum collected from February through June 1985. Serum from the positive homosexual subject was strongly positive on repeated ELISA testing, and was also positive by Western Blot test. The two thalassemia patients, who were repeatedly weakly-positive by ELISA, were negative by Western Blot test and presumed to be false positive reactors. Prevalence of HTLV-III/LAV virus in sexually-active homosexuals in Thailand in 1985 appears to be similar to the 1% rate among homosexuals in San Francisco in 1978 at the start of the AIDS epidemic there. 相似文献
76.
E. Wiener W. Wanachiwanawin K. Kotipan S. Fucharoen P. Wasi S. N. Wickramasinghe 《Transfusion medicine (Oxford, England)》1991,1(4):229-238
Summary. Thirty-five Thai patients with various α-thalassaemia (α-thal 1/α-thal 2, α-thal 1/HbCS, HbCS/ HbCS) and yβ-thalassaemia (β-thal/HbE, severe and mild form, HbE/HbE) syndromes were examined for the presence of immunoglobulins and C3d on o-tolidine positive erythroblasts in the bone marrow, and for the amounts of IgG of some specificities bound to circulating erythrocytes. In mild, but not in severe yβ-thal/HbE and in α-thalassaemia, the percentages of Ig-positive erythroblasts were significantly higher than in controls and correlated well with the percentages of IgG-positive erythroblasts. By contrast, the percentages of IgM and C3d positive erythroblasts were low and similar in thalassaemic and control marrows. A substantial proportion of thalassaemic patients showed more erythrocyte-bound IgG than controls, but statistically significant elevations were seen only in severe β-thal/HbE. Within a particular syndrome erythrocyte-bound IgG was more abundant in splenectomized than non-splenectomized subjects. It showed specificity for spectrin in some β-thalassaemic patients and for band 3 protein in several individuals with α- or β-thalassaemia. The results suggest that IgG antibodies play a role in the haemolysis of thalassaemia and that they are likely to be involved in the ineffective erythropoiesis in at least some of the syndromes studied. 相似文献
77.
Winichagoon P Svasti S Munkongdee T Chaiya W Boonmongkol P Chantrakul N Fucharoen S 《Translational Research, The Journal of Laboratory and Clinical Medicine》2008,152(4):178-184
Basic diagnosis of hemoglobinopathies can be performed by analysis of erythrocyte indices as well as by the separation and quantification of the common hemoglobin (Hb) fractions Hb A(2), Hb S, Hb C, Hb D, Hb E, and Hb F. This study used an automatic capillary zone electrophoresis system to diagnose various types of hemoglobinopathies common in the Thai population. A total of 459 adults were recruited, which consisted of normal, various types of thalassemia carriers, and thalassemia patients with different genotypes. Hb types and quantification of all Hb components were determined by an automated capillary zone electrophoresis. The automatic capillary electrophoresis system can separate and quantitate Hbs A, F, E, A(2), Constant Spring (CS), H, and Bart's in a way that is comparable with other Hb analysis methods. Moreover, the Hb A(2) peak can be distinguished clearly from the Hb E peak in individuals who carry Hb E. The slightly increased levels of Hb A(2), 3.5% +/- 0.4%, which is shown in the carriers of Hb E, confirm that Hb E is the silent phenotype of beta(+)-thalassemia. 相似文献
78.
Sanchaisuriya K Fucharoen G Sae-ung N Siriratmanawong N Surapot S Fucharoen S 《American journal of hematology》2001,67(3):189-193
We describe hematologic and DNA characterization of 12 hemoglobin C heterozygotes and three compound heterozygotes for hemoglobin C and hemoglobin E found in Thailand. Amplification and DNA analysis of genomic DNA by the polymerase chain reaction procedure permitted the identification of the beta(C) mutation at codon 6 of beta-globin gene (beta 6; GAG-AAG). beta-Globin gene haplotype analysis demonstrated that all beta(C) globin genes detected in these Thai individuals were associated with the haplotype (+ - - - - - +), indicating a non-African origin of this abnormal hemoglobin in Thailand. On routine hemoglobin typing, hemoglobin C is usually mistakenly identified as hemoglobin E because of theirs similar mobilities on cellulose acetate electrophoresis. The simple DNA assay for hemoglobin C based on an allele-specific polymerase chain reaction for accurate diagnosis of hemoglobin C was therefore developed. 相似文献
79.
Characterisation of a novel oral iron chelator: 1‐(N‐Acetyl‐6‐Aminohexyl)‐3‐Hydroxy‐2‐Methylpyridin‐4‐one 下载免费PDF全文
80.
Pattanapanyasat K Yongvanitchit K Tongtawe P Tachavanich K Wanachiwanawin W Fucharoen S Walsh DS 《Blood》1999,93(9):3116-3119
Certain red blood cell (RBC) disorders, including thalassemia, have been associated with an innate protection against malaria infection. However, many in vitro correlative studies have been inconclusive. To better understand the relationship between human RBCs with thalassemia hemoglobinopathies and susceptibility to in vitro infection, we used an in vitro coculture system that involved biotin labeling and flow cytometry to study the ability of normal and variant RBC populations in supporting the growth of Plasmodium falciparum malaria parasites. Results showed that both normal and thalassemic RBCs were susceptible to P falciparum invasion, but the parasite multiplication rates were significantly reduced in the thalassemic RBC populations. The growth inhibition was especially marked in RBCs from alpha-thalassemia patients (both alpha-thalassemia1/alpha-thalassemia2 and alpha-thalassemia1 heterozygote). Our observations support the contention that thalassemia confers protection against malaria and may explain why it is more prevalent in malaria endemic areas. 相似文献