ライフサイエンスコーパス: beta-thalassemia

1 obin S/beta(0)-thalassemia, and hemoglobin S/beta(+)-thalassemia).

2 enotypic severity of sickle cell disease and beta thalassemia.

3 notypic diversity of sickle cell disease and beta thalassemia.

4 are manifest in the inherited blood disorder beta thalassemia.

5 r population groups with a high frequency of beta thalassemia.

6 influence disease severity in patients with beta thalassemia.

7 tation contributes to the pathophysiology of beta thalassemia.

8 that AHSP is not a disease modifier in Hb E-beta thalassemia.

9 er iron-loading disorders such as homozygous beta thalassemia.

10 therapeutic range for sickle cell anemia and beta thalassemia.

11 in synthesis to treat sickle cell anemia and beta thalassemia.

12 cal modifier of hemoglobin disorders such as beta-thalassemia.

13 sis, and ineffective erythropoiesis, such as beta-thalassemia.

14 tions such as hereditary hemochromatosis and beta-thalassemia.

15 duals and patients with polycythemia vera or beta-thalassemia.

16 excess iron accumulation in mouse models of beta-thalassemia.

17 roblasts provides a robust ex vivo model for beta-thalassemia.

18 and iron overload in mice with nontransfused beta-thalassemia.

19 burden of renal dysfunction in patients with beta-thalassemia.

20 rmalities in GFR are common in patients with beta-thalassemia.

21 al compounds as pharmaceutical therapies for beta-thalassemia.

22 for erythropoiesis and its dysregulation in beta-thalassemia.

23 complication of iron-loading anemias such as beta-thalassemia.

24 t strategy for sickle cell disease (SCD) and beta-thalassemia.

25 nifestations of both sickle cell disease and beta-thalassemia.

26 els in patients with sickle cell disease and beta-thalassemia.

27 ibution, and utilization in diseases such as beta-thalassemia.

28 Hbb(th1/th1) mice, an experimental model of beta-thalassemia.

29 chain imbalance in cells from patients with beta-thalassemia.

30 hemoglobin disorders, sickle cell anemia and beta-thalassemia.

31 sferrin therapy might be beneficial in human beta-thalassemia.

32 be a complication of chronic anemias such as beta-thalassemia.

33 se as a modality to improve gene therapy for beta-thalassemia.

34 nd decreased functional beta-globin, causing beta-thalassemia.

35 on deficiency, erythroid protoporphyria, and beta-thalassemia.

36 his iron transporter in the iron overload of beta-thalassemia.

37 salient and ultimately fatal complication of beta-thalassemia.

38 atory genes, and tissue iron distribution in beta-thalassemia.

39 ts with sickle cell anemia and patients with beta-thalassemia.

40 chain labeling studies were compatible with beta-thalassemia.

41 poietic stress, including erythrocytosis and beta-thalassemia.

42 110 site that frequently is responsible for beta-thalassemia.

43 to the development of severe anemia in human beta-thalassemia.

44 for the treatment of sickle cell disease or beta-thalassemia.

45 mely erythropoietic protoporphyria (EPP) and beta-thalassemia.

46 n (LCR) totaling 1.7 kb could correct murine beta-thalassemia.

47 erythropoiesis and, to a greater extent, in beta-thalassemia.

48 rmally elevated apoptosis that characterizes beta-thalassemia.

49 ies, including sickle cell disease (SCD) and beta-thalassemia.

50 ge-dependent in North American patients with beta-thalassemia.

51 safe strategy for personalized treatment of beta-thalassemia.

52 cells to therapeutic levels in patients with beta-thalassemia.

53 globin lentiviral vector for gene therapy of beta-thalassemia.

54 for lentiviral vector-based gene therapy for beta-thalassemia.

55 (HbF) in people with sickle cell disease and beta-thalassemia.

56 of beta-globin synthesis and in consequence beta-thalassemia.

57 dressed by means of a murine model of severe beta-thalassemia.

58 lasts from normal subjects and patients with beta-thalassemia.

59 in (alpha2beta2) production, the hallmark of beta-thalassemia.

60 f of all patients born each year with severe beta-thalassemia.

61 duce the severity of sickle cell disease and beta-thalassemia.

62 els in those mice does not improve anemia of beta-thalassemia.

63 ributes to iron overload in a mouse model of beta-thalassemia.

64 a factor suppressing hepcidin production in beta-thalassemia.

65 nges are a frequent finding in patients with beta-thalassemia.

66 Novartis) for the removal of cardiac iron in beta-thalassemia.

67 stence of an autocrine amplification loop in beta-thalassemia.

68 in erythroblasts and sera from subjects with beta-thalassemia.

69 clinical severity of sickle cell disease and beta-thalassemia.

70 peutic potential for sickle cell disease and beta-thalassemias.

71 everity of sickle cell disease (SCD) and the beta-thalassemias.

72 (HbSC), 7 with sickle/beta-thalassemia (HbS/ beta-thalassemia [6 HbS/beta0, 1 HbS/beta+]), and 2 with

73 with hemoglobin SS (58.7%), 14 SC (30.4%), 4 beta-thalassemia (8.7%), and 1 sickle trait (2.2%).

74 he phenotypic diversity of hemoglobin (Hb) E beta thalassemia, a patient was encountered with persist

75 investigated how these pathways are used in beta-thalassemia, a common hemoglobinopathy in which bet

76 ally, loss of AHSP worsened the phenotype of beta-thalassemia, a common inherited anemia characterize

77 re of the hitherto available mouse models of beta-thalassemia, a model for human beta-thalassemia int

78 r sickling hemoglobinopathies: SC, SD, and S-beta thalassemia); albumin excretion rates (AER) and ren

79 Patients with beta-thalassemia also have low hepcidin levels.

80 mulation of excess unmatched alpha-globin in beta thalassemia and beta-globin in alpha thalassemia le

81 moglobin in many patients with deletion type beta thalassemias and the expression patterns of human g

82 ) are activated early in the pathogenesis of beta-thalassemia and are essential for excess iron accum

83 on absorption is one of the main features of beta-thalassemia and can lead to severe morbidity and mo

84 beta-Thalassemia and HFE-related hemochromatosis are 2 o

85 ic disease variation and pathogenesis in HbE beta-thalassemia and indicates that the epidemiology of

86 is critical for progressive iron overload in beta-thalassemia and may be a novel therapeutic target i

87 We analyzed mice affected by beta-thalassemia and observed, unexpectedly, a relativel

88 ls provides a possible new approach to treat beta-thalassemia and other genetic diseases such as sick

89 In beta-thalassemia and polycythemia vera (PV), disordered

90 tial as future therapeutics for untransfused beta-thalassemia and PV.

91 abnormal iron absorption in individuals with beta-thalassemia and related disorders.

92 fetal hemoglobin diminishes the severity of beta-thalassemia and sickle cell anemia, a strategy usin

93 a potent genetic modifier of the severity of beta-thalassemia and sickle cell anemia.

94 bF) levels diminish the clinical severity of beta-thalassemia and sickle cell anemia.

95 nical severity of hemoglobinopathies such as beta-thalassemia and sickle cell anemia.

96 Then, we used beta-thalassemia and sickle cell disease mice as models

97 new advances include the hemoglobinopathies (beta-thalassemia and sickle cell disease); rare genetic

98 locus give rise to the beta-globinopathies, beta-thalassemia and sickle cell disease, which begin to

99 cer of fetal hemoglobin (HbF) in people with beta-thalassemia and sickle cell disease.

100 extended these findings to various models of beta-thalassemia and sickle cell disease.

101 he major disorders of adult beta-hemoglobin: beta-thalassemia and sickle cell disease.

102 cal HbF inducers to be used in patients with beta-thalassemia and sickle cell disease.

103 cates that preventing iron overload improves beta-thalassemia and strengthens the essential role of T

104 tion of excess alpha-globin chains in murine beta-thalassemia and to decrease the severity of the dis

105 lations and 27 ethnic groups for alpha-, and beta-thalassemias and additional querying options in the

106 n of mutations responsible for 6 anemias and beta-thalassemias and additional substitutions without c

107 -globin levels seen in some human deletional beta-thalassemias and hereditary persistence of fetal he

108 The beta-thalassemias and sickle cell anemia are severe cong

109 ation in HbF levels in patients with SCA and beta thalassemia, and in healthy adults.

110 enetic loci associated with cystic fibrosis, beta-thalassemia, and Duchenne muscular dystrophy, sugge

111 of 47) of patients with sickle cell disease, beta-thalassemia, and hemophilia A/B or von Willebrand d

112 h to ameliorating clinically severe forms of beta-thalassemia, and in particular, the very common sub

113 eficial in individuals with hemochromatosis, beta-thalassemia, and related disorders.

114 Sickle cell disease and beta-thalassemia are common genetic disorders caused by

115 As initial human gene therapy trials for beta-thalassemia are contemplated, 2 critical questions

116 The beta-thalassemias are caused by more than 200 mutations

117 beta-thalassemias are the most common single gene disord

118 in disorders, such as sickle cell anemia and beta-thalassemia, are relatively common genetic diseases

119 lobin), mainly sickle cell disease (SCD) and beta-thalassemia, become symptomatic postnatally as feta

120 beta-Thalassemia (beta-Thal) is a group of life-threaten

121 In beta-thalassemia, beta-globin synthesis is reduced causi

122 approach for translation into a therapy for beta-thalassemia.beta-thalassemia is characterised by th

123 beta-thalassemia (betaT) is a genetic blood disorder cau

124 e been effective in decreasing the number of beta-thalassemia births in some countries that have inst

125 ulation survey of Sri Lankan schoolchildren, beta-thalassemia (but not HbE) trait was associated with

126 obinopathies such as sickle cell disease and beta-thalassemia, but current gamma-globin-inducing drug

127 immune response in asplenic individuals with beta-thalassemia, but previous PPSV23s affect the memory

128 es to the therapy of sickle cell disease and beta thalassemia by identifying specific new targets for

129 d an artificially engineered model for human beta thalassemia by knocking down beta-globin gene and p

130 gand traps may have therapeutic relevance in beta-thalassemia by suppressing the deleterious effects

131 in healthy volunteers, and in patients with beta-thalassemia, by expanding late-stage erythroblasts

132 logical progression of polycythemia vera and beta-thalassemia, by modulating erythroid proliferation

133 element, and ablation of this interaction by beta-thalassemia-causing mutations decreases its promote

134 Sickle-cell disease (SCD) and beta thalassemia constitute worldwide public health prob

135 verely affected subjects with both alpha and beta thalassemia could result in cure.

136 DNA sequencing, performed to rule out Hb S/beta-thalassemia, detected homozygous Hb SS.

137 Individuals with beta-thalassemia develop progressive systemic iron overl

138 duction of HbF to ameliorate sickle cell and beta-thalassemia disease severity.

139 man with transfusion dependent hemoglobin E/beta-thalassemia disease was treated with hydroxyurea to

140 production in patients with sickle cell and beta-thalassemia diseases because of its good efficacy a

141 n patients with sickle cell anemia (SCA) and beta thalassemia, diseases that represent major public h

142 : HRI deficiency exacerbates EPP and renders beta-thalassemia embryonically lethal.

143 When alpha-thalassemia is co-inherited with beta-thalassemia, excess free alpha-globin chains are re

144 eristics and current therapeutic standard in beta-thalassemia, explore the definition of ineffective

145 Therefore, beta-thalassemia fits into the broader framework of prot

146 ucts of normal, heterozygous, and homozygous beta thalassemia genetic disorders.

147 Correction of murine models of beta-thalassemia has been achieved through high-level gl

148 igation in which patients with and models of beta-thalassemia have provided significant insight.

149 ients with both nontransfused and transfused beta-thalassemia have very high serum ERFE levels, which

150 rthermore, ASO treatment of mice affected by beta-thalassemia (HBB(th3/+) mice, referred to hereafter

151 , as well as the beta compound heterozygote, beta thalassemia/HbE.

152 th sickle hemoglobin C (HbSC), 7 with sickle/beta-thalassemia (HbS/ beta-thalassemia [6 HbS/beta0, 1

153 In addition to the severe beta thalassemias, hematologists have begun to recognize

154 We hypothesize that in beta-thalassemia heme oxygenase (HO) 1 could play a path

155 ms are highly associated with HbF in Chinese beta-thalassemia heterozygotes.

156 by gene replacement therapy including severe beta-thalassemia if the level of expression can be furth

157 s, as in the pathological condition known as beta thalassemia in humans, is adaptive rather than path

158 n overload was assessed in 192 patients with beta-thalassemia in a 1-year prospective, multicenter st

159 This is also the first example of beta-thalassemia in humans caused by a mutation in an er

160 ession levels could modulate the severity of beta-thalassemia in humans.

161 els of induced anemia, polycythemia vera and beta-thalassemia in which macrophages were chemically de

162 al alpha-globin mRNA in patients with severe beta-thalassemia in whom 20% of erythroid precursors exp

163 ivation of Hri during heme deficiency and in beta-thalassemia increases eIF2alpha phosphorylation and

164 duals exhibit a mild chronic anemia, and HbE/beta-thalassemia individuals show a range of clinical ma

165 this condition compared with other forms of beta thalassemia intermedia.

166 Here we used a murine model of beta-thalassemia intermedia (Hbb(th1/th1) mice) to inves

167 ron overload and anemia consistent with both beta-thalassemia intermedia (th3/+) and major (th3/th3).

168 atients with beta-thalassemia major (TM) and beta-thalassemia intermedia (TI) were consecutively recr

169 tal hemoglobin (HbF) levels and morbidity in beta-thalassemia intermedia (TI), we analyzed data from

170 verload in untransfused patients affected by beta-thalassemia intermedia and Hamp modulation provides

171 Individuals with beta-thalassemia intermedia and hemoglobinopathies of eq

172 hubeta(A)(2)) could be achieved in mice with beta-thalassemia intermedia following engraftment with b

173 iency exacerbates the phenotypic severity of beta-thalassemia intermedia in mice.

174 n overload in hereditary hemochromatosis and beta-thalassemia intermedia is caused by hepcidin defici

175 In contrast, in anemic beta-thalassemia intermedia mice, there is altered progr

176 , mouse studies have shown correction of the beta-thalassemia intermedia phenotype and a partial, var

177 is hypothesis, we exploited a mouse model of beta-thalassemia intermedia, Th3/(+) We observed that HO

178 odels of beta-thalassemia, a model for human beta-thalassemia intermedia, we previously demonstrated

179 In beta-thalassemia intermedia, which does not require bloo

180 subsequently evaluated in a murine model of beta-thalassemia intermedia.

181 nd limited iron overload in a mouse model of beta-thalassemia intermedia.

182 Although beta thalassemia is considered to be a classic monogenic

183 Hemoglobin E/beta thalassemia is now a worldwide clinical problem.

184 Hemoglobin E beta thalassemia is the commonest form of severe thalass

185 beta-thalassemia is a disease characterized by anemia an

186 Beta-thalassemia is a genetic disorder caused by mutatio

187 Beta-thalassemia is a severe genetic blood disorder caus

188 beta-Thalassemia is associated with several abnormalitie

189 beta-Thalassemia is characterized by ineffective erythro

190 Clinical heterogeneity in HbE beta-thalassemia is incompletely explained by genotype,

191 beta-Thalassemia is one of the most common inherited ane

192 ophysiology of ineffective erythropoiesis in beta-thalassemia is poorly understood.

193 Hemoglobin E (HbE) beta-thalassemia is the most common severe thalassemia s

194 he mechanism of increased iron absorption in beta-thalassemia is unclear.

195 A preclinical humanized mouse model of beta thalassemia major or Cooley anemia (CA) was generat

196 Unlike previously described animal models of beta thalassemia major, homozygous gammabeta(0) mice swi

197 A total of 255 patients with beta-thalassemia major (TM) and beta-thalassemia interme

198 ion (PAH) remains a concern in patients with beta-thalassemia major (TM) and intermedia (TI); however

199 Patients with beta-thalassemia major (TM) and other refractory anemias

200 osis and treatment of cardiac dysfunction in beta-thalassemia major (TM).

201 ited 31 chronically transfused patients with beta-thalassemia major and collected samples immediately

202 nsfusion therapy can rescue mice affected by beta-thalassemia major and modify both the absorption an

203 Sickle cell disease and beta-thalassemia major are clinically significant heredi

204 ntiation factor-15 (GDF-15) in patients with beta-thalassemia major before and after transfusion, in

205 beta-Thalassemia major causes ineffective erythropoiesis

206 Hepcidin levels in patients with beta-thalassemia major dynamically reflect competing inf

207 ents transplanted more than 20 years ago for beta-thalassemia major had a different health-related qu

208 The experience of HCT for persons with beta-thalassemia major has been successfully extended to

209 Treatment of patients with beta-thalassemia major has improved dramatically during

210 A total of 197 consecutive patients with beta-thalassemia major or intermedia with at least 10 ye

211 ays/week) for myocardial iron removal in 197 beta-thalassemia major patients with myocardial siderosi

212 notype and a partial, variable correction of beta-thalassemia major phenotype.

213 Patients affected by beta-thalassemia major require lifelong transfusions bec

214 Individuals with beta-thalassemia major require regular lifelong Red Bloo

215 beta-Thalassemia major results from severely reduced or

216 -three patients (sickle cell anemia, n = 32; beta-thalassemia major, n = 6; and bone marrow failure,

217 We sought to determine whether, in beta-thalassemia major, transfusion-mediated inhibition

218 oad in several of these disorders, including beta-thalassemia major, which is characterized by a defe

219 steady-state bone marrow from patients with beta-thalassemia major.

220 Cardiac iron overload causes most deaths in beta-thalassemia major.

221 clinical severity of sickle cell disease and beta-thalassemia major.

222 n overload are the leading cause of death in beta-thalassemia major.

223 omising therapeutic option for subjects with beta-thalassemia major.

224 ietic progenitor cells (HPCs) in adults with beta-thalassemia major.

225 surements in the management of patients with beta-thalassemia major.

226 exists between basic and clinical studies of beta-thalassemia major.

227 ias with ineffective erythropoiesis, such as beta-thalassemia, manifest inappropriately low hepcidin

228 Ocular findings in beta-thalassemia may correlate to the disease itself, ir

229 Beta-thalassemia may present with various signs, both st

230 ective erythropoiesis and anemia observed in beta-thalassemia might be ameliorated by increasing the

231 mice, which serve as a model of untransfused beta-thalassemia, minihepcidin ameliorates ineffective e

232 In older mice with untransfused beta-thalassemia, minihepcidin improves erythropoiesis a

233 When applied to a murine beta-thalassemia model, this approach allows for the nor

234 We used the Hbb(th3/+) beta-thalassemia mouse and hemoglobin E (HbE)/beta-thala

235 ance of the four most common Southeast Asian beta-thalassemia mutations in at-risk pregnancies betwee

236 Here, we reported that correction of beta-thalassemia mutations in patient-specific iPSCs usi

237 rated that CRISPR/Cas9 successfully corrects beta-thalassemia mutations in patient-specific iPSCs.

238 is in a mother and father carrying identical beta-thalassemia mutations was accomplished.

239 ls to correct the sickle mutation as well as beta-thalassemia mutations.

240 s, a vital process in pathologies, including beta-thalassemia, myelodysplastic syndrome, and viral in

241 pression to induce iron deficiency in murine beta-thalassemia not only mitigates the iron overload, b

242 Beta-thalassemia ocular manifestations include ocular su

243 ed in 110 individuals with hemoglobin (Hb) E beta-thalassemia, one of the commonest forms of inherite

244 beta-thalassemia, one of the most common genetic disease

245 psilon-globin indicate that individuals with beta thalassemia or sickle cell disease are likely to be

246 ng been a therapeutic goal for patients with beta-thalassemia or hemoglobinopathies.

247 specific enhancement of HbF in patients with beta-thalassemia or sickle cell anemia.

248 al hemoglobin expression in individuals with beta-thalassemia or sickle cell disease.

249 Co-inheritance of HPFH with beta-thalassemia- or SCD-associated gene mutations allev

250 emolysis in the peripheral blood, and in the beta thalassemias particularly, premature destruction of

251 cers of HbF have been studied in the past in beta-thalassemia patient populations, with limited succe

252 design of future studies of HbF inducers in beta-thalassemia patient populations.

253 entivirally encoded beta-globin transgene in beta-thalassemia-patient iPS cell clones meet our safe h

254 center cross-sectional study of 1309 Italian beta-thalassemia patients (mean age 36.4+/-9.3 years; 46

255 The prevalence of PAH in beta-thalassemia patients as confirmed on right heart ca

256 induced pluripotent stem cells (iPSCs) from beta-thalassemia patients could offer an approach to cur

257 eta-thalassemia mouse and hemoglobin E (HbE)/beta-thalassemia patients to investigate dysregulated ne

258 ight into defective neutrophil maturation in beta-thalassemia patients, which contributes to deficien

259 g the defective immune functions observed in beta-thalassemia patients.

260 in splenectomized and nonsplenectomized HbE/beta-thalassemia patients.

261 uated mice combining the hemochromatosis and beta-thalassemia phenotypes.

262 The gene-corrected human beta-thalassemia progenitor cells were transplanted into

263 rsistence of HbF, ameliorate the severity of beta-thalassemia, raising the potential for genetic ther

264 beta-thalassemia results from point mutations or small d

265 patients receiving conventional treatment of beta-thalassemia revealed poorer outcomes compared with

266 hemoglobin C (SC) profile, 1 was sickle cell-beta(+) thalassemia (S beta(+)-thal), and 4 were sickle

267 sickle-hemoglobin C disease (SC), or sickle-beta(+)-thalassemia (Sbeta(+)) who were identified by ne

268 alassemia [Sbeta(0)], 495 SC, and 161 sickle beta(+)-thalassemia [Sbeta(+)]), aged 3 years old and ov

269 d blood transplants (BMT and CBT) for severe beta thalassemia (SBT) and sickle cell disease (SCD) as

270 globin gene is naturally suited for treating beta-thalassemia, several alternatives have been propose

271 A follow-up study of 45 patients with HbE beta thalassemia showed that methemoglobin levels were s

272 mRNA increases in transgenic mouse models of beta thalassemia, suggesting that epsilon- and beta-glob

273 Evidence from beta-thalassemia suggests that regulation of hepcidin by

274 In comparison, individuals with beta-thalassemia syndromes had elevated GDF15 serum leve

275 luation of therapies for the sickle cell and beta-thalassemia syndromes rely on our understanding of

276 the severity of sickle cell disease and the beta-thalassemia syndromes.

277 on should largely ameliorate sickle cell and beta-thalassemia syndromes.

278 olytic anemias and as a modifier gene in the beta-thalassemia syndromes.

279 to hypothesize that more iron is absorbed in beta-thalassemia than is required for erythropoiesis and

280 ignificantly more prevalent in patients with beta-thalassemia than previously recognized and correlat

281 ommon subgroup of patients with hemoglobin E beta-thalassemia that makes up approximately half of all

282 In beta-thalassemia, the mechanism driving ineffective eryt

283 ene disorders such as sickle cell anemia and beta-thalassemia through activation of the fetal gamma-g

284 els in an extended Asian-Indian kindred with beta thalassemia to a 1.5-Mb interval on chromosome 6q23

285 Extensive review of observational studies on beta-thalassemia, to determine the prevalence and spectr

286 stress, including a hypoxic environment and beta-thalassemia, to identify two markedly different res

287 anemia and in subjects with hemoglobin E or beta thalassemia trait from Thailand and Hong Kong.

288 We also found that: (i) beta-thalassemia trait carriers displayed lower TC and w

289 nd 23 in control, HbAS, HbSS, and alpha- and beta-thalassemia trait erythrocytes, respectively.

290 semia and indicates that the epidemiology of beta-thalassemia trait requires consideration when plann

291 Hb) A2, a marker used for the diagnosis of a beta-thalassemia trait.

292 though advances in the care of patients with beta-thalassemia translate into better patient survival,

293 In beta-thalassemia, unequal production of alpha- and beta-

294 Yet, in a recent LV-based clinical trial for beta-thalassemia, vector integration within the HMGA2 ge

295 Here, using a murine model of beta-thalassemia, we demonstrate for the first time that

296 Using a mouse model for dominant beta-thalassemia, we developed disease allele-free PG ES

297 years with sickle cell anemia or sickle cell-beta thalassemia were examined by using transcranial dup

298 Successful gene therapy of beta-thalassemia will require replacement of the abnorma

299 ypothesis, we studied 120 patients with Hb E-beta thalassemia with mild, moderate, or severe clinical

300 In 62 of 69 Sri Lankan patients with HbE beta-thalassemia with moderate or severe phenotype, hepc