Genomes and Genes
Summary: An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
- Roche C, Malashkevich V, Balazs T, Dantsker D, Chen Q, Moreira J, et al. Structural and functional studies indicating altered redox properties of hemoglobin E: implications for production of bioactive nitric oxide. J Biol Chem. 2011;286:23452-66 pubmed publisher..Together, these data suggest a model in which the HbE mutation, as a consequence of a relative change in redox properties, decreases the overall rate of Hb-mediated production of bioactive NO. ..
- Fucharoen S, Winichagoon P. Haemoglobinopathies in southeast Asia. Indian J Med Res. 2011;134:498-506 pubmed..Therefore, it is possible to set a strategy for prevention and control of thalassaemia, which includes population screening for heterozygotes, genetic counselling and foetal diagnosis with selective abortion of affected pregnancies. ..
- Chotivanich K, Udomsangpetch R, Pattanapanyasat K, Chierakul W, Simpson J, Looareesuwan S, et al. Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. Blood. 2002;100:1172-6 pubmedb>Hemoglobin E is very common in parts of Southeast Asia. The possible malaria protective effects of this and other inherited hemoglobin abnormalities prevalent in Thailand were assessed in a mixed erythrocyte invasion assay...
- Muanprasat C, Wongborisuth C, Pathomthongtaweechai N, Satitsri S, Hongeng S. Protection against oxidative stress in beta thalassemia/hemoglobin E erythrocytes by inhibitors of glutathione efflux transporters. PLoS ONE. 2013;8:e55685 pubmed publisherIn beta thalassemia/hemoglobin E (Hb E), abnormally high levels of oxidative stress account for accelerated senescence and increased destruction of erythrocytes...
- de Silva S, Fisher C, Premawardhena A, Lamabadusuriya S, Peto T, Perera G, et al. Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Sri Lanka Thalassaemia Study Group. Lancet. 2000;355:786-91 pubmed..The management of these disorders could require about 5% of the total health budget. We need to learn more about the natural history and appropriate management of HbE/beta thalassaemia if resources are to be used effectively. ..
- Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of ?-thalassemias and hemoglobin E disorders. Expert Rev Hematol. 2010;3:103-17 pubmed publisherThe ?-thalassemias, including the hemoglobin E disorders, are not only common in the Mediterranean region, South-East Asia, the Indian subcontinent and the Middle East but have now become a global problem, spreading to much of Europe, the ..
- Olivieri N. Treatment strategies for hemoglobin E beta-thalassemia. Blood Rev. 2012;26 Suppl 1:S28-30 pubmed publisherb>Hemoglobin E beta (ß)-thalassemia (HbE thalassemia) is a very common form of ?-thalassemia that exhibits a heterogeneous clinical presentation and variable clinical course...
- Allen A, Fisher C, Premawardhena A, Peto T, Allen S, Arambepola M, et al. Adaptation to anemia in hemoglobin E-ß thalassemia. Blood. 2010;116:5368-70 pubmed publisherb>Hemoglobin E ? thalassemia is the commonest form of severe thalassemia in many Asian countries. Its remarkably variable clinical phenotype presents a major challenge to determining its most appropriate management...
- Sripichai O, Munkongdee T, Kumkhaek C, Svasti S, Winichagoon P, Fucharoen S. Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease. Ann Hematol. 2008;87:375-9 pubmed..This finding demonstrates that the genetic combination leading to the more/less degree of alpha- to non-alpha-globin chains imbalance is indeed the cause of the severe/mild thalassemia phenotype. ..
- Sripichai O, Whitacre J, Munkongdee T, Kumkhaek C, Makarasara W, Winichagoon P, et al. Genetic analysis of candidate modifier polymorphisms in Hb E-beta 0-thalassemia patients. Ann N Y Acad Sci. 2005;1054:433-8 pubmedb>Hemoglobin E (Hb E)-beta-thalassemia patients display a range of clinical severities, from nearly asymptomatic to transfusion-dependent thalassemia major...
- Chunpanich S, Fucharoen S, Sanchaisuriya K, Fucharoen G, Kam itsara K. Molecular and hematological characterization of hemoglobin Hope/hemoglobin E and hemoglobin Hope/alpha-thalassemia 2 in Thai patients. Lab Hematol. 2004;10:215-20 pubmed..A simple method based on allele-specific polymerase chain reaction for accurate diagnosis of the Hb Hope is described. ..
- Fucharoen S, Ketvichit P, Pootrakul P, Siritanaratkul N, Piankijagum A, Wasi P. Clinical manifestation of beta-thalassemia/hemoglobin E disease. J Pediatr Hematol Oncol. 2000;22:552-7 pubmed..The study of the life history and clinical courses of patients with beta-thalassemia/Hb E should provide important information for the better management of these patients. ..
- Paritpokee N, Wiwanitkit V, Bhokaisawan N, Boonchalermvichian C, Preechakas P. Serum erythropoietin levels in pediatric patients with beta-thalassemia/hemoglobin E. Clin Lab. 2002;48:631-4 pubmed..determination of serum EPO in children with beta-thalassemia/Hb E and also compared the results with those in hemoglobin E trait, beta-thalassemia/Hb E as well as healthy non-anemic controls of similar age...
- Ohashi J, Naka I, Patarapotikul J, Hananantachai H, Brittenham G, Looareesuwan S, et al. Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. Am J Hum Genet. 2004;74:1198-208 pubmedThe hemoglobin E variant (HbE; ( beta )26Glu-->Lys) is concentrated in parts of Southeast Asia where malaria is endemic, and HbE carrier status has been shown to confer some protection against Plasmodium falciparum malaria...
- Olivieri N, Muraca G, O Donnell A, Premawardhena A, Fisher C, Weatherall D. Studies in haemoglobin E beta-thalassaemia. Br J Haematol. 2008;141:388-97 pubmed publisher..Age-related changes in the pattern of adaptation to anaemia suggest that more cost-effective approaches to management should be explored. ..
- Nuntakarn L, Fucharoen S, Fucharoen G, Sanchaisuriya K, Jetsrisuparb A, Wiangnon S. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. Blood Cells Mol Dis. 2009;42:32-5 pubmed publisher..Our data reveals that in the majority of these Hb E-beta-thalassemia patients, it is very hard to predict the clinical phenotype of the patients from the beta-globin mutations and these secondary genetic modifiers. ..
- Win N, Lwin A, Oo M, Aye K, Soe S, Okada S. Hemoglobin E prevalence in malaria-endemic villages in Myanmar. Acta Med Okayama. 2005;59:63-6 pubmed..To prevent and control severe thalassemia syndromes in Myanmar, extensive prevalence studies of the country?s indigenous races are suggested. ..
- Thurlow R, Winichagoon P, Green T, Wasantwisut E, Pongcharoen T, Bailey K, et al. Only a small proportion of anemia in northeast Thai schoolchildren is associated with iron deficiency. Am J Clin Nutr. 2005;82:380-7 pubmed..The contribution of iron deficiency to anemia was low, and its detection was complicated by coexisting suboptimal vitamin A status. ..
- Premawardhena A, Fisher C, Olivieri N, de Silva S, Arambepola M, Perera W, et al. Haemoglobin E beta thalassaemia in Sri Lanka. Lancet. 2005;366:1467-70 pubmed..Age-related changes in the pattern of adaptation to anaemia suggest that different and more cost-effective approaches to management should be explored. ..
- Nuinoon M, Makarasara W, Mushiroda T, Setianingsih I, Wahidiyat P, Sripichai O, et al. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. Hum Genet. 2010;127:303-14 pubmed publisher..This study revealed that all the three reported loci and the alpha-globin gene locus are the best and common predictors of the disease severity in beta-thalassemia. ..
- Intorasoot S, Thongpung R, Tragoolpua K, Chottayaporn M. Hemoglobin E detection using PCR with confronting two-pair primers. J Med Assoc Thai. 2008;91:1677-80 pubmed..the polymerase chain reaction with confronting two-pair primers (PCR-CTPP) for detection and identification of hemoglobin E (Hb E). Fifty unrelated northern Thais were included in the present study...
- Premawardhena A, de Silva S, Arambepola M, Olivieri N, Merson L, Muraco J, et al. Thalassemia in Sri Lanka: a progress report. Hum Mol Genet. 2004;13 Spec No 2:R203-6 pubmed..These findings may have important implications for the control and management of thalassemia in Asian populations. ..
- Zimmermann M, Fucharoen S, Winichagoon P, Sirankapracha P, Zeder C, Gowachirapant S, et al. Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemia. Am J Clin Nutr. 2008;88:1026-31 pubmed..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...
- Nakavachara P, Viprakasit V. Children with hemoglobin E/?-thalassemia have a high risk of being vitamin D deficient even if they get abundant sun exposure: a study from Thailand. Pediatr Blood Cancer. 2013;60:1683-8 pubmed publisher..01). Our results highlight the importance of monitoring serum vitamin D levels in children with Hb E/?-thalassemia regardless of their clinical severity or the amount of sunlight they are exposed to. ..
- Fucharoen G, Sanchaisuriya K, Sae ung N, Dangwibul S, Fucharoen S. A simplified screening strategy for thalassaemia and haemoglobin E in rural communities in south-east Asia. Bull World Health Organ. 2004;82:364-72 pubmed..The strategy should prove useful for population screening in prevention and control programmes in rural communities in south-east Asia where laboratory facilities and economic resources are limited. ..
- Tachavanich K, Viprakasit V, Chinchang W, Glomglao W, Pung Amritt P, Tanphaichitr V. Clinical and hematological phenotype of homozygous hemoglobin E: revisit of a benign condition with hidden reproductive risk. Southeast Asian J Trop Med Public Health. 2009;40:306-16 pubmedb>Hemoglobin E (HbE) is one of the most prevalent beta-globin variant, which is widely distributed in Southeast Asia especially in Thailand. Homozygosity for this variant is common and may occur with iron deficiency...
- Escuredo E, Marinaki A, Duley J, Thein S, Rees D. The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E. Nucleosides Nucleotides Nucleic Acids. 2004;23:1261-3 pubmed..described a family in which the interaction between pyrimidine 5' nucleotidase I (P5N-I) deficiency and hemoglobin E resulted in severe haemolytic anaemia...
- Kukongviriyapan V, Somparn N, Senggunprai L, Prawan A, Kukongviriyapan U, Jetsrisuparb A. Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemia. Pediatr Cardiol. 2008;29:130-5 pubmed..We investigated endothelial function in pediatric patients with hemoglobin E-beta thalassemia (HbE-beta thalassemia), who have been exposed to excessive iron and oxidative stress for much ..
- Sripichai O, Makarasara W, Munkongdee T, Kumkhaek C, Nuchprayoon I, Chuansumrit A, et al. A scoring system for the classification of beta-thalassemia/Hb E disease severity. Am J Hematol. 2008;83:482-4 pubmed publisher..This system, therefore, can increase the accuracy of studies of genotype-phenotype interactions and facilitate decisions for appropriate patient management. ..
- Rojnuckarin P, Settapiboon R, Vanichsetakul P, Sueblinvong T, Sutcharitchan P. Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene. Am J Hematol. 2007;82:663-5 pubmed..Therefore, spontaneous beta globin mutations occasionally occur in normal population. Its clinical significance is noteworthy in countries with high prevalence of beta thalassemia. ..
- Jetsrisuparb A, Sanchaisuriya K, Fucharoen G, Fucharoen S, Wiangnon S, Jetsrisuparb C, et al. Development of severe anemia during fever episodes in patients with hemoglobin E trait and hemoglobin H disease combinations. J Pediatr Hematol Oncol. 2006;28:249-53 pubmed..4 g/dL and 19%. These observations suggest that the instability of Hb E, especially during fever, may play an important role in the clinical manifestations of Hb E trait/Hb H disease with Hb Paksé and with Hb Constant Spring. ..
- Viprakasit V, Tanphaichitr V, Chinchang W, Sangkla P, Weiss M, Higgs D. Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. Blood. 2004;103:3296-9 pubmed..It remains to be seen if any association between AHSP and clinical severity is present in other population groups with a high frequency of beta thalassemia. ..
- Kalpravidh R, Siritanaratkul N, Insain P, Charoensakdi R, Panichkul N, Hatairaktham S, et al. Improvement in oxidative stress and antioxidant parameters in beta-thalassemia/Hb E patients treated with curcuminoids. Clin Biochem. 2010;43:424-9 pubmed publisher..After 3 months withdrawal of treatment, all parameters returned close to baseline levels. Curcuminoids may be used to ameliorate oxidative damage in patients with beta-thalassemia/Hb E disease. ..
- Chaichompoo P, Kumya P, Khowawisetsut L, Chiangjong W, Chaiyarit S, Pongsakul N, et al. Characterizations and proteome analysis of platelet-free plasma-derived microparticles in ?-thalassemia/hemoglobin E patients. J Proteomics. 2012;76 Spec No.:239-50 pubmed publisher..This article is part of a Special Issue entitled: Integrated omics. ..
- Premawardhena A, De Silver S, Arambepola M, Olivieri N, Vichinsky E, Merson L, et al. Hemoglobin E-beta-thalassemia: Progress report from the International Study Group. Ann N Y Acad Sci. 2005;1054:33-9 pubmed..These preliminary observations, made over the last 7 years, provide directions for future research into this increasingly important disease. ..
- Mais D, Gulbranson R, Keren D. The range of hemoglobin A(2) in hemoglobin E heterozygotes as determined by capillary electrophoresis. Am J Clin Pathol. 2009;132:34-8 pubmed publisherCapillary electrophoresis (CE) is capable of distinguishing hemoglobin E (HbE) from hemoglobin A(2) (HbA(2)), thus permitting quantification of HbA(2) in patients with HbE...
- Lithanatudom P, Leecharoenkiat A, Wannatung T, Svasti S, Fucharoen S, Smith D. A mechanism of ineffective erythropoiesis in ?-thalassemia/Hb E disease. Haematologica. 2010;95:716-23 pubmed publisher..These results suggest the failure of thalassemic erythroblasts to cope with cellular stress caused by an impaired UPR function as a result of high Ca(2+) levels may exacerbate thalassemic cell death during erythropoiesis. ..
- Watanapokasin Y, Chuncharunee S, Sanmund D, Kongnium W, Winichagoon P, Rodgers G, et al. In vivo and in vitro studies of fetal hemoglobin induction by hydroxyurea in beta-thalassemia/hemoglobin E patients. Exp Hematol. 2005;33:1486-92 pubmedSome, but not all, beta-thalassemia/hemoglobin E (beta-thal/HbE) patients respond to hydroxyurea treatment...
- Chhotray G, Dash B, Ranjit M, Cohla R, Mohanty D. Haemoglobin E/beta-thalassaemia - an experience in the eastern Indian state of Orissa. Acta Haematol. 2003;109:214-6 pubmed
- Ma Q, Abel K, Sripichai O, Whitacre J, Angkachatchai V, Makarasara W, et al. Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia. Clin Genet. 2007;72:497-505 pubmed..gene cluster to disease severity in groups of 207 mild- and 305 severe unrelated patients from Thailand with Hemoglobin E (HbE)/beta(0)-thalassemia and normal alpha-globin genes...
- Lorey F. Asian immigration and public health in California: thalassemia in newborns in California. J Pediatr Hematol Oncol. 2000;22:564-6 pubmed..It has also changed the way other thalassemic disorders are viewed, such as Cooley anemia, which previously affected mainly individuals of Mediterranean origin. Now, most affected patients are of Asian origin. ..
- Than A, Harano T, Harano K, Myint A, Ogino T, Okadaa S. High incidence of 3-thalassemia, hemoglobin E, and glucose-6-phosphate dehydrogenase deficiency in populations of malaria-endemic southern Shan State, Myanmar. Int J Hematol. 2005;82:119-23 pubmed..The overall frequencies for the various red cell genetic disorders were as follows: 3-thal, 37.5% (343/916); hemoglobin E (Hb-E), 20.3% (186/916); G6PD-Mahidol, 17.5% (160/916); and 3-thal, 0.3% (3/916)...
- Dasgupta J, Sen U, Choudhury D, Datta P, Chakrabarti A, Chakrabarty S, et al. Crystallization and preliminary X-ray structural studies of hemoglobin A2 and hemoglobin E, isolated from the blood samples of beta-thalassemic patients. Biochem Biophys Res Commun. 2003;303:619-23 pubmed..b>Hemoglobin E, is another common abnormal hemoglobin, caused by splice site mutation in exon 1 of beta globin gene, when ..
- Olivieri N, Thayalsuthan V, O Donnell A, Premawardhena A, Rigobon C, Muraca G, et al. Emerging insights in the management of hemoglobin E beta thalassemia. Ann N Y Acad Sci. 2010;1202:155-7 pubmed publisher..Here, we present a summary of our work in patients with this condition, which attempts to define clinical, adaptive, and genetic factors of possible value in determining the early management of this condition. ..
- Fucharoen S, Sanchaisuriya K, Fucharoen G, Panyasai S, Devenish R, Luy L. Interaction of hemoglobin E and several forms of alpha-thalassemia in Cambodian families. Haematologica. 2003;88:1092-8 pubmed..A simplified PCR assay for simultaneous detection of HbCS and HbPS would facilitate characterization of these genotypes in both the clinical setting and population screening programs in the region. ..
- Carnley B, Prior J, Gilbert A, Lim E, Devenish R, Sing H, et al. The prevalence and molecular basis of hemoglobinopathies in Cambodia. Hemoglobin. 2006;30:463-70 pubmed..7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia. ..
- Kishore B, Khare P, Gupta R, Bisht S, Majumdar K. Hemoglobin E disease in North Indian population: a report of 11 cases. Hematology. 2007;12:343-7 pubmedb>Hemoglobin E (beta26Glu --> Lys) is the most common hemoglobin (Hb) variant in Southeast Asia and the second most prevalent worldwide...
- Datta P, Basu S, Chakravarty S, Chakravarty A, Banerjee D, Chandra S, et al. Enhanced oxidative cross-linking of hemoglobin E with spectrin and loss of erythrocyte membrane asymmetry in hemoglobin Ebeta-thalassemia. Blood Cells Mol Dis. 2006;37:77-81 pubmed..The present work shows enhanced formation of high molecular weight cross-linked complexes of hemoglobin derivatives with erythroid spectrin in HbEbeta-thalassemia. ..
- Hough R, Kelly R, Nakielny R, Winfield D. Extramedullary haemopoiesis in haemoglobin E/beta-thalassaemia. Br J Haematol. 2003;120:918 pubmed
- Sanguansermsri P, Shimbhu D, Wongvilairat R, Pimsorn C, Sanguansermsri T. Spontaneous mutation of the hemoglobin Leiden (beta 6 or 7 Glu-->0) in a Thai girl. Haematologica. 2003;88:ECR35 pubmed..The deletion of codon 6 or 7 (-GAG) of the beta-globin gene in the patient may be due to an unequal crossing over during the mother's oogenesis. ..
- Nienhuis A, Nathan D. Pathophysiology and Clinical Manifestations of the ?-Thalassemias. Cold Spring Harb Perspect Med. 2012;2:a011726 pubmed publisher..Modern chelation regimens are effective in removing iron and preserving or restoring organ function. ..
- Dowsett C. Managing leg ulceration in patients with sickle cell disorder. Nurs Times. 2005;101:48-9, 51 pubmed..She concludes that there is a need for more research into the management of these complex wounds. ..