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 in synthesis to treat sickle cell anemia and beta thalassemia.

3 enotypic severity of sickle cell disease and beta thalassemia.

4 notypic diversity of sickle cell disease and beta thalassemia.

5 are manifest in the inherited blood disorder beta thalassemia.

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

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

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

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

10 a factor suppressing hepcidin production in beta-thalassemia.

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

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

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

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

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

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

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

18 tions such as hereditary hemochromatosis and beta-thalassemia.

19 ent of patients with sickle cell disease and beta-thalassemia.

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

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

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

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

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

25 al compounds as pharmaceutical therapies for beta-thalassemia.

26 for erythropoiesis and its dysregulation in beta-thalassemia.

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

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

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

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

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

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

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

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

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

36 escribing how to manage HCC in patients with beta-thalassemia.

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

38 ic approach in sickle cell disease (SCD) and beta-thalassemia.

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

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

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

42 salient and ultimately fatal complication of beta-thalassemia.

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

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

45 chain labeling studies were compatible with beta-thalassemia.

46 poietic stress, including erythrocytosis and beta-thalassemia.

47 ferent schedules of transferrin treatment in beta-thalassemia.

48 110 site that frequently is responsible for beta-thalassemia.

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

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

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

52 nal muscular atrophy, alpha-thalassemia, and beta-thalassemia.

53 whom 25 were heterozygous), and 6 had alpha-/beta-thalassemia.

54 edication modifying anemia for patients with beta-thalassemia.

55 treatment with hepcidin mimetics ameliorates beta-thalassemia.

56 to treat congenital blood disorders such as beta-thalassemia.

57 g targeting ferroportin for the treatment of beta-thalassemia.

58 a and disease complications in patients with beta-thalassemia.

59 thies, such as sickle cell disease (SCD) and beta-thalassemia.

60 enotype in a heterozygous humanised model of beta-thalassemia.

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

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

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

64 safe strategy for personalized treatment of beta-thalassemia.

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

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

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

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

69 rate the severity of sickle cell disease and beta-thalassemia(1).

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

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

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

73 ltered nonmalignant homeostasis, we selected beta-thalassemia, a hemoglobin disorder, as a paradigm.

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

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

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

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

78 treatments in ameliorating IE and anemia in beta-thalassemia and could provide guidance to translate

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

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

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

82 ep by step, the possible differences between beta-thalassemia and non beta-thalassemia patients.

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

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

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

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

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

88 The most recent clinical trials for beta-thalassemia and SCD are showing promising outcomes:

89 d HbF levels can reduce the severity of both beta-thalassemia and SCD.

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

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

92 beta-Thalassemia and sickle cell disease (SCD) are the m

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

110 of iron disorders, such as hemochromatosis, beta-thalassemia, atransferrinemia and anemia of inflamm

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

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

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

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

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

116 Beta thalassemias (betath) are the result of mutations i

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

118 beta-Thalassemia (BT) is a hereditary disorder character

119 beta-Thalassemia (BT) is an inherited genetic disorder t

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

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

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

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

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

125 obin disorders sickle cell disease (SCD) and beta-thalassemia by induction of fetal hemoglobin (HbF,

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

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

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

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

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

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

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

133 Individuals with beta-thalassemia develop progressive systemic iron overl

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

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

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

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

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

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

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

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

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

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

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

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

146 firmed sickle cell disease (Hb SS) or sickle beta thalassemia (Hb Sbeta), and underwent allogeneic ha

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

148 e iron loading phenotype in a mouse model of beta-thalassemia [Hbb(th3/+) mice] and used these antibo

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

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

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

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

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

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

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

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

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

158 Our findings reveal a defect in HSCs in beta-thalassemia induced by an altered BM microenvironme

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

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

161 le in the bone marrow of animals affected by beta-thalassemia intermedia (Hbbth3/+).

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

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

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

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

166 Individuals with beta-thalassemia intermedia and hemoglobinopathies of eq

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

168 is also activated to reduce the severity of beta-thalassemia intermedia in the Hbbth1/th1 murine mod

169 beta-Thalassemia intermedia is a disorder characterized

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

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

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

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

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

175 n homeostasis in the Hbbth3/+ mouse model of beta-thalassemia intermedia.

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

177 beta-thalassemia is a disease characterized by anemia an

178 beta-Thalassemia is a genetic anemia caused by partial o

179 Beta-thalassemia is a genetic disorder caused by mutatio

180 beta-thalassemia is a hereditary disorder with limited a

181 Beta-thalassemia is a severe genetic blood disorder caus

182 HbE/beta-thalassemia is a subtype of beta-thalassemia with e

183 beta-Thalassemia is associated with several abnormalitie

184 beta-Thalassemia is characterized by ineffective erythro

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

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

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

188 Studying molecular defects behind beta-thalassemia is severely impeded by paucity of mater

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

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

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

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

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

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

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

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

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

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

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

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

201 beta-Thalassemia major causes ineffective erythropoiesis

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

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

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

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

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

207 beta-Thalassemia major results from severely reduced or

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

230 Patients with transfusion-dependent beta-thalassemia need regular red-cell transfusions.

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

232 Beta-thalassemia ocular manifestations include ocular su

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

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

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

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

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

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

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

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

241 ythroid progeny from sickle cell disease and beta-thalassemia patient-derived HSPCs, respectively.

242 ne from peripheral blood stem cells of a HbE/beta-thalassemia patient.

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

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

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

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

247 erging issue, the number of papers on HCC in beta-thalassemia patients is limited and based on anecdo

248 In this study, a high percentage of beta-thalassemia patients receiving luspatercept had hem

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

250 As beta-thalassemia patients' survival has increased over t

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

252 differences between beta-thalassemia and non beta-thalassemia patients.

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

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

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

256 ess erythropoiesis, such as in patients with beta-thalassemia, promotes the tissue iron accumulation

257 This is the first human cellular model for beta-thalassemia providing a sustainable source of disea

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

259 Beta-thalassemia represents a heterogeneous group of hae

260 beta-thalassemia results from point mutations or small d

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

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

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

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

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

266 ist sickling, while those from patients with beta-thalassemia show restored globin chain balance.

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

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

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

270 The beta-thalassemia syndromes are the most prevalent geneti

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

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

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

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

275 Transfusion-dependent beta-thalassemia (TDT) and sickle cell disease (SCD) are

276 nisms in patients with transfusion-dependent beta-thalassemia (TDT) mainly chronic anemia, iron overl

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

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

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

280 In beta-thalassemia, the mechanism driving ineffective eryt

281 g countries, where the greatest demand for a beta-thalassemia therapy lies.

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

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

284 2:1 ratio, adults with transfusion-dependent beta-thalassemia to receive best supportive care plus lu

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 A humanised mouse model of beta-thalassemia was used, in which heterozygous animals

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

297 contributes to iron-loading anemias such as beta-thalassemia, whereas excess hepcidin induction cont

298 ntage of patients with transfusion-dependent beta-thalassemia who had a reduction in transfusion burd

299 HbE/beta-thalassemia is a subtype of beta-thalassemia with extremely high frequency in Asia.

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