Hematologic and molecular characterization of a Sicilian cohort of α thalassemia carriers

被引：0
|
作者：
Guida, Valentina [1 ,2 ]
Colosimo, Alessia [1 ,2 ,3 ]
Fichera, Marco [4 ]
Lombardo, Turiddu [5 ,6 ]
Rigoli, Luciana [7 ]
Dallapiccola, Bruno [1 ,2 ,8 ]
机构：
[1] IRCCS CSS, San Giovanni Rotondo, Italy
[2] CSS Mendel Inst, Viale Regina Margherita 261, I-00198 Rome, Italy
[3] Univ Teramo, Dept Comparat Biomed Sci, Teramo, Italy
[4] IRCCS Oasi Maria SS, Lab Diagnost Genet, Troina, Italy
[5] Vittorio Emanuele II Hosp, Serv Thalassemia, Catania, Italy
[6] Univ Catania, Catania, Italy
[7] Univ Messina, Dept Paediat, Messina, Italy
[8] Univ Roma La Sapienza, Dept Expt Med & Pathol, Rome, Italy
来源：
HAEMATOLOGICA | 2006年 / 91卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Detailed hematologic and molecular analyses were carried out on a cohort of Sicilian individuals with suspected or asymptomatic alpha-thalassemia. Iron deficiency, mild beta-thalassemia alleles and most common Mediterranean alpha-globin deletional mutations were excluded. All negative individuals were then tested for alpha-thalassemia point mutations by a denaturing high-performance liquid chromatography (DHPLC)-based assay. Four rare alpha-globin variants (Hb Interlaken, Hb Chesapeake, Hb Lombard, Hb Sun Prairie) and one point mutation (polyA: AATAAA-G in alpha 2) were identified in 15 out of 80 carriers. Direct sequence analysis carried out in the remaining 65 negative individuals revealed no further sequence variants.
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页码：409 / 410
页数：2
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