Literature DB >> 17365982

The thalassaemia syndromes.

Henrik Birgens1, Rolf Ljung.   

Abstract

The thalassaemia syndromes, endemic in the Mediterranean area, the Middle East, the Indian subcontinent, the Far East and in tropical Africa, are the most common hereditary disorders in humans, and millions of people are affected by diseases. Due to a widespread population flow between continents in recent past centuries, the thalassaemias are now occurring with relatively high frequency in many non-endemic areas. In the Nordic countries, homozygous thalassaemia is still relatively rare, and most health-care personnel are not familiar with these diseases. This article focuses on two important issues, namely the biological and the clinical aspects of thalassaemia.

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Mesh:

Year:  2007        PMID: 17365982     DOI: 10.1080/00365510601046417

Source DB:  PubMed          Journal:  Scand J Clin Lab Invest        ISSN: 0036-5513            Impact factor:   1.713


  12 in total

Review 1.  Carrier screening for beta-thalassaemia: a review of international practice.

Authors:  Nicole E Cousens; Clara L Gaff; Sylvia A Metcalfe; Martin B Delatycki
Journal:  Eur J Hum Genet       Date:  2010-06-23       Impact factor: 4.246

2.  Carrier screening for beta-thalassemia in the Maldives: perceptions of parents of affected children who did not take part in screening and its consequences.

Authors:  Fazeela Waheed; Colleen Fisher; AwoNiyi Awofeso; David Stanley
Journal:  J Community Genet       Date:  2016-07-08

3.  Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes.

Authors:  Nigel Pereira; Michelle Wood; Emerly Luong; Allison Briggs; Michael Galloway; Rose A Maxwell; Steven R Lindheim
Journal:  J Assist Reprod Genet       Date:  2019-02-13       Impact factor: 3.412

4.  The autophagy-activating kinase ULK1 mediates clearance of free α-globin in β-thalassemia.

Authors:  Christophe Lechauve; Julia Keith; Eugene Khandros; Stephanie Fowler; Kalin Mayberry; Abdullah Freiwan; Christopher S Thom; Paola Delbini; Emilio Boada Romero; Jingjing Zhang; Irene Motta; Heather Tillman; M Domenica Cappellini; Mondira Kundu; Mitchell J Weiss
Journal:  Sci Transl Med       Date:  2019-08-21       Impact factor: 17.956

Review 5.  Alternative splicing and disease.

Authors:  Jamal Tazi; Nadia Bakkour; Stefan Stamm
Journal:  Biochim Biophys Acta       Date:  2008-10-17

6.  "He didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes.

Authors:  Nicole E Cousens; Clara L Gaff; Sylvia A Metcalfe; Martin B Delatycki
Journal:  J Community Genet       Date:  2013-01-13

7.  Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia.

Authors:  Karen S Romanello; Karina K L Teixeira; João Pedro M O Silva; Sheila T Nagamatsu; Marcos André C Bezerra; Igor F Domingos; Diego A P Martins; Aderson S Araujo; Carolina Lanaro; Carlos A Breyer; Regiane A Ferreira; Carla Franco-Penteado; Fernando F Costa; Iran Malavazi; Luis E S Netto; Marcos A de Oliveira; Anderson F Cunha
Journal:  PLoS One       Date:  2018-12-06       Impact factor: 3.240

8.  Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran.

Authors:  Seyed Mohammad Bagher Hashemi-Soteh; Hossein Karami; Seyed Saeid Mousavi; Touraj Farazmandfar; Ahmad Tamadoni
Journal:  J Clin Lab Anal       Date:  2019-09-02       Impact factor: 3.124

9.  Complete blood count reference intervals for healthy Han Chinese adults.

Authors:  Xinzhong Wu; Min Zhao; Baishen Pan; Jie Zhang; Mingting Peng; Lanlan Wang; Xiaoke Hao; Xianzhang Huang; Runqing Mu; Wei Guo; Rui Qiao; Wenxiang Chen; Hong Jiang; Yueyun Ma; Hong Shang
Journal:  PLoS One       Date:  2015-03-13       Impact factor: 3.240

10.  The potential role of cell penetrating peptides in the intracellular delivery of proteins for therapy of erythroid related disorders.

Authors:  Lefkothea C Papadopoulou; Asterios S Tsiftsoglou
Journal:  Pharmaceuticals (Basel)       Date:  2013-01-07
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