ライフサイエンスコーパス: thalassaemia

1 such as primary immunodeficiencies and beta-thalassaemia.

2 luspatercept for transfusion-dependent beta-thalassaemia.

3 nRNA lentiviral vector for treatment of beta-thalassaemia.

4 ssaemia and no agents are approved for alpha-thalassaemia.

5 ults with NTD alpha-thalassaemia or NTD beta-thalassaemia.

6 he treatment of sickle cell disease and beta-thalassaemia.

7 reatment of both alpha-thalassaemia and beta-thalassaemia.

8 downregulates a-globin expression causing a-thalassaemia.

9 pendent (NTD) alpha-thalassaemia or NTD beta-thalassaemia.

10 patients with non-transfusion-dependent beta-thalassaemia.

11 complications in patients with haemoglobin E thalassaemia.

12 emia is the most common genotype of severe B-thalassaemia.

13 a is the most common genotype of severe beta-thalassaemia.

14 g the clinical outcome of patients with beta-thalassaemia.

15 is the primary mechanism for anaemia in beta-thalassaemia.

16 cells (HSCs) in a mouse model of human beta-thalassaemia.

17 for haemoglobin AC and CC, and 18 for alpha-thalassaemia.

18 ially fatal complication of the treatment of thalassaemia.

19 meral muscular dystrophy and a case of alpha-thalassaemia.

20 es of alpha-haemoglobin excess, such as beta-thalassaemia.

21 morphism, urogenital abnormalities and alpha-thalassaemia.

22 ha-thalassaemia and 11 (73%) of 15 with beta-thalassaemia.

23 tem such as primary immunodeficiencies and B-thalassaemia.

24 005) and those who were homozygous for alpha-thalassaemia (0.07, 0.01-0.83; p=0.035).

25 lobin AC (0.83, 0.67-0.96), homozygous alpha-thalassaemia (0.63, 0.48-0.83), and heterozygous alpha-t

26 ia (0.63, 0.48-0.83), and heterozygous alpha-thalassaemia (0.83, 0.74-0.92).

27 ), HbC heterozygosity (HbAC) 103 (7%), alpha thalassaemia 438 (28%), type O blood group 621 (40%), an

28 nts associated with malaria protection, beta thalassaemia (a haemoglobinopathy) was the earliest to b

29 Conversely, women with beta-thalassaemia, a condition in which GDF15 levels are chro

30 moglobin S (HbS), haemoglobin C (HbC), alpha thalassaemia, ABO blood groups, and glucose-6-phosphate

31 Others are known disease genes for alpha thalassaemia, adult polycystic kidney disease and tubero

32 entified transfusion-dependent patients with thalassaemia, aged 2-15 years, who were receiving defera

33 e (p<0.0001), five (100%) of five with alpha-thalassaemia and 11 (73%) of 15 with beta-thalassaemia.

34 Several clinical forms of alpha-thalassaemia and beta-thalassaemia, including the co-inh

35 of mitapivat for the treatment of both alpha-thalassaemia and beta-thalassaemia.

36 dent beta-thalassaemia or haemoglobin E/beta-thalassaemia and Eastern Cooperative Oncology Group scor

37 of whom 20 were enrolled (15 [75%] with beta-thalassaemia and five [25%] with alpha-thalassaemia) and

38 lder with NTD alpha-thalassaemia or NTD beta-thalassaemia and haemoglobin concentrations of 10 g/dL o

39 hromatin-remodeling protein ATRX cause alpha thalassaemia and mental retardation, but the severity of

40 se-modifying therapies are approved for beta-thalassaemia and no agents are approved for alpha-thalas

41 synthesis has an ameliorating effect on beta thalassaemia and sickle cell anaemia, globally the commo

42 Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the most commo

43 s could be a powerful approach to treat beta-thalassaemia and sickle-cell disease.

44 ed that in addition to the two factors (beta thalassaemia and Xmn I-G gamma site) on chromosome 11p,

45 beta-thalassaemia and five [25%] with alpha-thalassaemia) and received mitapivat.

46 Disorders of haemoglobin synthesis (thalassaemia) and structure (eg, sickle-cell disease) we

47 s, haemoglobin E beta-thalassaemia, or alpha-thalassaemia), and a baseline haemoglobin concentration

48 arkers and patients for haemoglobin E, alpha-thalassaemia, and a mutation of G6PD, which encodes gluc

49 n genes, the first trial of gene therapy for thalassaemia, and future prospects of cell therapy.

50 The alpha+-thalassaemias are the commonest known human genetic diso

51 athies, such as sickle cell disease and beta-thalassaemia, are caused by mutations in the beta-globin

52 l retardation syndrome associated with alpha-thalassaemia (ATR-X syndrome).

53 mal mental retardation associated with alpha thalassaemia (ATR-X syndrome).

54 tients with genotypes that cause severe beta-thalassaemia (beta(0)/beta(0), beta(0)/beta(+IVS-I-110),

55 against severe falciparum malaria: alpha(+)-thalassaemia, blood group O, G6PD deficiency, and the rs

56 rm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory el

57 ults with NTD alpha-thalassaemia or NTD beta-thalassaemia by increasing haemoglobin concentration and

58 oaches to treat sickle cell disease and beta-thalassaemia by increasing HbF levels in postnatal RBCs(

59 Haemoglobin E (HbE) beta-thalassaemia causes approximately 50% of all severe thal

60 bin E thalassaemia who attended the National Thalassaemia Centre in Kurunegala, Sri Lanka, between Ja

61 s of beta-thalassaemia or haemoglobin E/beta-thalassaemia (concomitant alpha-globin deletion, mutatio

62 as9 therapy for sickle cell disease and beta-thalassaemia, exa-cel (Casgevy).

63 patients with non-transfusion-dependent beta-thalassaemia, for whom effective approved treatment opti

64 een Sl genotype, sickle cell genotype, alpha+thalassaemia genotype, gender or age and CR1 cluster num

65 ed by baseline haemoglobin concentration and thalassaemia genotype.

66 patients with non-transfusion-dependent beta-thalassaemia, haemoglobin concentrations lower than 10 g

67 Few clinical studies have investigated beta-thalassaemia, haemoglobin E, P. vivax malaria, or pregna

68 Severe forms of alpha-thalassaemia, haemoglobin H disease and haemoglobin Bart

69 ion of the genetic mechanisms underlying the thalassaemias has led to a clearer understanding of the

70 aemoglobin E resulting in haemoglobin E/beta-thalassaemia, have been described.

71 progenitor cells derived from beta(IVS2-654)-thalassaemia/HbE patients, which showed restoration of c

72 of either excess alpha globin genes in beta thalassaemia heterozygotes or alpha globin gene deletion

73 anics and surface protein expression of beta thalassaemia heterozygous erythrocytes, measured their s

74 gotes or alpha globin gene deletions in beta thalassaemia homozygotes is a significant factor in modu

75 gene silencing and DNA methylation, causing thalassaemia in a patient.

76 ne of the most common mutations causing beta-thalassaemia in Chinese and Southeast Asians.

77 199) newborns will be born with severe alpha-thalassaemia in Thailand in 2020, which is considerably

78 genetic diversity and health burden of alpha-thalassaemia in the region remains limited.

79 linical forms of alpha-thalassaemia and beta-thalassaemia, including the co-inheritance of beta-thala

80 Patients with beta-thalassaemia increase the risk of bacterial infections,

81 beta thalassaemia intermedia (betaTI) are a heterogeneous gro

82 7 regularly transfused TM and 8 untransfused thalassaemia intermedia (TI) patients to determine the i

83 rce countries for thalassaemia major and for thalassaemia intermedia not involving an allele for haem

84 ron overload typical of haemochromatosis and thalassaemia intermedia.

85 Thalassaemia is a diverse group of genetic disorders wit

86 Non-transfusion-dependent (NTD) thalassaemia is characterised by ineffective erythropoie

87 HbE beta-thalassaemia is due to a point mutation in codon 26 of t

88 Thalassaemia is one of the most common genetic diseases

89 beta-Thalassaemia is one of the most common monogenic disease

90 Nevertheless, treatment of thalassaemia is still largely dependent on supportive ca

91 Worldwide, haemoglobin E B-thalassaemia is the most common genotype of severe B-tha

92 Worldwide, haemoglobin E beta-thalassaemia is the most common genotype of severe beta-

93 The blood disorder, beta-thalassaemia, is considered an attractive target for gen

94 The pathogenesis of thalassaemia lies in the unbalanced globin chain product

95 beta-Thalassaemia major (beta-TM) is an inherited haemoglobin

96 e treatment guidelines exist unlike for beta thalassaemia major (betaTM).

97 NTBPI was present in all but 2 of 28 thalassaemia major (TM) patients who had received conven

98 that reported in high-resource countries for thalassaemia major and for thalassaemia intermedia not i

99 g-term deferiprone treatment with 30 matched thalassaemia major controls who were on long-term treatm

100 more than 30 years ago, 50% of patients with thalassaemia major die before the age of 35 years, predo

101 ation has transformed the natural history of thalassaemia major into a chronic disease with a prolong

102 352 (90%) of 390 patients had beta-thalassaemia major, 27 (7%) had sickle cell disease, fiv

103 on deposition in two-thirds of patients with thalassaemia major, placing them at risk of heart failur

104 th sickle cell disease and 5 (29%) with beta-thalassaemia major.

105 e paucity of long-term data for this form of thalassaemia makes evidence-based management challenging

106 ional and regional health policies for alpha-thalassaemia management.

107 though bone-marrow transplantation for beta-thalassaemia may be successful in suitable patients.

108 The alpha+-thalassaemias may have been selected for their ability b

109 nd the most potent de-repressor is the alpha-thalassaemia mental retardation syndrome X-linked (ATRX)

110 the H3.3 chaperone complex containing alpha-thalassaemia/mental retardation syndrome X-linked (ATRX)

111 ease management in most patients with severe thalassaemia, might further complicate the clinical phen

112 generated the first continuous maps of alpha-thalassaemia mutations in Thailand and sub-national esti

113 DNA samples were genotyped for beta thalassaemia mutations, alpha globin genotype and copy n

114 Patients with non-transfusion-dependent thalassaemia (NTDT), although they do not require regula

115 Patients with haemoglobin E thalassaemia often had complications and shortened survi

116 E26K), and any mutation causing severe beta-thalassaemia on the other.

117 rs or older, had confirmed diagnosis of beta-thalassaemia or haemoglobin E/beta-thalassaemia (concomi

118 luded adults with transfusion-dependent beta-thalassaemia or haemoglobin E/beta-thalassaemia and East

119 to be aged 18 years or older with NTD alpha-thalassaemia or NTD beta-thalassaemia and haemoglobin co

120 new oral treatment for adults with NTD alpha-thalassaemia or NTD beta-thalassaemia by increasing haem

121 of pyruvate kinase, in adults with NTD alpha-thalassaemia or NTD beta-thalassaemia.

122 s with non-transfusion-dependent (NTD) alpha-thalassaemia or NTD beta-thalassaemia.

123 ha-globin gene mutations, haemoglobin E beta-thalassaemia, or alpha-thalassaemia), and a baseline hae

124 patients with non-transfusion-dependent beta-thalassaemia, other than transfusion therapy administere

125 and baseline Non-Transfusion-Dependent beta-thalassaemia-Patient-Reported Outcome Tiredness/Weakness

126 uggest a mechanism that excess hemin of beta-thalassaemia patients is a significant cause of immune s

127 IFN-gamma and IL-10 by whole blood from beta-thalassaemia patients upon stimulation with a range of b

128 tion, was increased in whole blood from beta-thalassaemia patients, either with or without stimulatio

129 haemoglobin production in cells with a beta-thalassaemia phenotype) gives the edited HSPCs and the h

130 mmarised the current evidence-base for alpha-thalassaemia prevalence and diversity for the region.

131 We compiled a geodatabase of alpha-thalassaemia prevalence and genetic diversity surveys an

132 otypes and homozygous and heterozygous alpha-thalassaemia provide significant protection from severe

133 ong patients with transfusion-dependent beta-thalassaemia remain limited.

134 with chronic haemolytic anaemia, such as in thalassaemia, require repeated blood transfusions, which

135 least 1 year, had haemoglobin SS or Sbeta(0)thalassaemia sickle-cell-disease subtypes, and were sche

136 tified X-linked mental retardation and alpha-thalassaemia syndrome protein (ATRX), a putative member

137 Transfusion-dependent beta-thalassaemia (TDT) is a severe disease, resulting in lif

138 icantly higher in young children with alpha+-thalassaemia than in normal children.

139 ts beneficial effects for patients with beta-thalassaemia through induction of gamma-globin, has the

140 ion and have an asymptomatic phenotype (beta-thalassaemia trait).

141 ene have the haematological features of beta-thalassaemia trait, and reduced levels of beta-globin sy

142 are directed towards finding a cure for beta-thalassaemia using vorinostat.

143 ies at risk for sickle cell anaemia and beta-thalassaemia, we successfully identified the fetal genot

144 ted haemoglobin SS or haemoglobin Sbeta zero thalassaemia, weighing at least 10 kg.

145 haemoglobin SS (HbSS) or haemoglobin Sbeta(0)thalassaemia, were aged 9-18 months at randomisation, an

146 f whole blood from healthy controls and beta-thalassaemia, while inhibition of HO-1 by SnPP enhanced

147 we included all patients with haemoglobin E thalassaemia who attended the National Thalassaemia Cent

148 of patients with transfusion-dependent beta-thalassaemia with a manageable safety profile.

149 saemia, including the co-inheritance of beta-thalassaemia with haemoglobin E resulting in haemoglobin

150 the human ATRX gene result in X-linked alpha-thalassaemia with mental retardation (ATRX) syndrome and

151 18 years or older, with NTDT (including beta-thalassaemia with or without alpha-globin gene mutations

152 national effort to improve the management of thalassaemia, with the aim of increasing the expression

153 aemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births