α-thalassemia carrier identification by DNA analysis in the screening for thalassemia

✍ Scribed by Galanello, Renzo; Sollaino, Carla; Paglietti, Elisabetta; Barella, Susanna; Perra, Chiara; Doneddu, Ilaria; Pirroni, Maria G.; Maccioni, Liliana; Cao, Antonio

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 54 KB
• Volume: 59
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199812)59:4<273::aid-ajh2>3.0.co;2-3

✦ Synopsis

Differentiation between heterozygous ␣-thalassemia and several phenotypically resembling alleles at the ␤-globin gene cluster such as coinherited ␦and ␤-thalassemia or ␥␦␤-thalassemia is a critical step in genetic counseling. In this paper we report our experience in the identification of the ␣-thalassemia carrier state using polymerase chain reaction (PCR)-based methods, and the feasibility and simplification of screening for thalassemia using this approach. ␣-Globin genotype was determined by PCR-based method in 526 adult subjects with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal hemoglobin A 2 and F, and normal serum iron. To verify the reliability of the protocol used, in 68 of these subjects we performed globin chain synthesis analysis and in 101 we determined ␣-globin genotype by Southern blot analysis. Five hundred twenty-one (99%) of 526 subjects examined were identified as carriers of one or two ␣-thalassemia alleles. The identification of the ␣-thalassemia carrier state may be fast and accurate by PCR-based method, avoiding other cumbersome and expensive methods such as globin chain synthesis and Southern blot analysis. Am.