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Identification of HB J-Sardegna [α50(CE8)His→Asp] by HPLC and its Incidence in Northern Sardinia

 

作者: MancaLaura,   MasalaBruno,  

 

期刊: Hemoglobin  (Taylor Available online 1989)
卷期: Volume 13, issue 1  

页码: 33-44

 

ISSN:0363-0269

 

年代: 1989

 

DOI:10.3109/03630268908998051

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

As many as 7,717 babies born consecutively and 3,412 blood donors of Sardinian ancestry have been examined for the detection of the Hb J-Sardegna variant [α50(CE8)His→Asp]; all subjects were from Northern Sardinia. Hemolysates were analyzed by isoelectricfocusing and the identification of the variant was made by reversed phase high performance liquid chromatography of the tryptic peptides. A total of 28 carriers (1:397) of Hb J-Sardegna were identified. The incidence of 0.25% makes this hemoglobin one of the most commonα-globin structural mutants in humans. The distribution of the anomaly appears to be non-homogeneous in the island. The quantity of the variant ranged from 19 to 36%; this wide range probably reflects the co-inheritance of anα-thalassemia anomaly.

 

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