The x-Thalassemias  

Oleh:

Pie, Frederic B. ; Weatherall, David J.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 371 no. 20 (Nov. 2014), page 1908-1916.
Topik: Thalassemias

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2014.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

The thalassemias are the most common human monogenic diseases.1 These inherited disorders of hemoglobin synthesis are characterized by a reduced production of globin chains of hemoglobin.2 Worldwide, the most important forms are the a- and ß-thalassemias, which affect production of the a-globin and ß-globin chains, respectively. Although ß-thalassemia is the more clinically significant form,3 a-thalassemia occurs at a high frequency across the tropical belt, almost reaching fixation (a term in population genetics denoting that a mutant allele of a particular gene has become the only allele expressed in the population — i.e., that it has reached a frequency of 100%) in parts of southern Asia. It has been estimated that about 5% of the population worldwide carry an a-thalassemia variant. 4-7

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