ライフサイエンスコーパス: thalassaemia

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

2 ially fatal complication of the treatment of thalassaemia.

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

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

5 morphism, urogenital abnormalities and alpha-thalassaemia.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

32 7 regularly transfused TM and 8 untransfused thalassaemia intermedia (TI) patients to determine the i

33 ron overload typical of haemochromatosis and thalassaemia intermedia.

34 Thalassaemia is one of the most common genetic diseases

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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