thalassemia syndromes

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英文文献

  • Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
  • Scheps KG1,2, Francipane L3, Nevado J4,5, Basack N6, Attie M6, Bergonzi MF3, Cerrone GE1,2, Lapunzina P4,5, Varela V1,2.
  • American journal of medical genetics. Part A.Am J Med Genet A.2016 Apr;170(4):986-91. doi: 10.1002/ajmg.a.37532. Epub 2016 Jan 11.
  • Two distinct syndromes that link α-thalassemia and intellectual disability (ID) have been described: ATR-X, due to mutations in the ATRX gene, and ATR-16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16. A critical region where the candidate genes for t
  • PMID 26753516
  • Pulmonary hypertension associated with thalassemia syndromes.
  • Fraidenburg DR1, Machado RF1.
  • Annals of the New York Academy of Sciences.Ann N Y Acad Sci.2016 Mar 23. doi: 10.1111/nyas.13037. [Epub ahead of print]
  • Chronic hemolytic anemia has increasingly been identified as an important risk factor for the development of pulmonary hypertension (PH). Within the thalassemia syndromes, there are multiple mechanisms, both distinct and overlapping, by which PH develops and that differ among β-thalassemia major or
  • PMID 27008311

和文文献

  • Association between bone mineral density and erythropoiesis in Thai children and adolescents with thalassemia syndromes
  • MAHACHOKLERTWATTANA Pat,POOTRAKUL Pensri,CHUANSUMRIT Ampaiwan,CHOUBTUM Lulin,SRIPHRAPRADANG Arporn,SIRISRIRO Rojana,RAJATANAVIN Rajata
  • Journal of bone and mineral metabolism 24(2), 146-152, 2006-03-30
  • NAID 10018194419

関連リンク

The deficiencies in hemoglobin biosynthesis that characterize the various forms of thalassemia arise from mutations in or near the two globin gene clusters which encode the globin polypeptide subunits of hemoglobin. To date, no ...
Treatment for thalassemia major often involves regular blood transfusions and folate supplements. If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build ...

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★リンクテーブル★
関連記事syndrome」「thalassemia

syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」


thalassemia」

  [★] サラセミア

WordNet   license wordnet

「an inherited form of anemia caused by faulty synthesis of hemoglobin」
thalassaemia, Mediterranean anemia, Mediterranean anaemia




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