Hemoglobin Variants in Cyprus

被引:19
作者
Kyrri, Andreani R.
Felekis, Xenia
Kalogerou, Eleni
Wild, Barbara J.
Kythreotis, Loukas
Phylactides, Marios
Kleanthous, Marina
机构
[1] Thalassaemia Centre, Makarios Hospital, Nicosia
[2] Thalassaemia Department, Cyprus Institute of Neurology and Genetics, Nicosia
[3] Haematology Department, King's College Hospital, London
[4] Thalassaemia Centre, Makarios Hospital
关键词
-Thalassemia; Structural variants; Cyprus; PERFORMANCE LIQUID-CHROMATOGRAPHY; HAEMOGLOBIN-D; THALASSEMIA MUTATIONS; LEPORE; SILENT; THALASSAEMIA; SUBSTITUTION; MUTANT; GIRL;
D O I
10.1080/03630260902813502
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Cyprus, located at the eastern end of the Mediterranean region, has been a place of eastern and western civilizations, and the presence of various hemoglobin (Hb) variants can be considered a testimony to past colonizations of the island. In this study, we report the structural Hb variants identified in the Cypriot population (Greek Cypriots, Maronites, Armenians, and Latinos) during the thalassemia screening of 248,000 subjects carried out at the Thalassaemia Centre, Nicosia, Cyprus, over a period of 26 years. A sample population of 65,668 people was used to determine the frequency and localization of several of the variants identified in Cyprus. The localization of some of the variants in regions where the presence of foreign people was most prevalent provides important clues to the origin of the variants. Twelve structural variants have been identified by DNA sequencing, nine concerning the -globin gene and three concerning the -globin gene. The most common -globin variants identified were Hb S (0.2%), Hb D-Punjab (0.02%), and Hb Lepore-Washington-Boston (Hb Lepore-WB) (0.03%); the most common -globin variant was Hb Setif (0.1%). The presence of some of these variants is likely to be directly linked to the history of Cyprus, as archeological monuments have been found throughout the island which signify the presence for many years of the Greeks, Syrians, Persians, Arabs, Byzantines, Franks, Venetians, and Turks.
引用
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页码:81 / 94
页数:14
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