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

Manca, Laura and Masala, Bruno Lucio (1989) Identification of HB J-Sardegna [α50(CE8)His→Asp] by HPLC and its incidence in Northern Sardinia. Hemoglobin, Vol. 13 (1), p. 33-44. eISSN 1532-432X. Article.

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DOI: 10.3109/03630268908998051

Abstract

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 [α 50(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 common α-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 an α-thalassemia anomaly.

Item Type:Article
ID Code:3087
Status:Published
Refereed:Yes
Uncontrolled Keywords:HB J-Sardegna variant, hemolysates, α-thalassemia, Sardinia
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
Publisher:Taylor & Francis
eISSN:1532-432X
Deposited On:05 Oct 2009 11:03

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