Nondeletional α-thalassemia: First description of αHphα and αNcoα mutations in a Spanish population

✍ Scribed by Ayala, S.; Colomer, D.; Aymerich, M.; Pujades, A.; Vives-Corrons, J. Ll.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 608 KB
• Volume: 52
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199607)52:3<144::aid-ajh3>3.0.co;2-t

✦ Synopsis

Several different deletions underlie the molecular basis of a-thalassemia. The most common a-thalassemia determinant in Spain is the rightward deletion (-a".'). To our knowledge, however, no cases of a-thalassemia due to nondeletional mutations have so far been described in this particular Mediterranean area. Here, we report the existence of nondeletional forms of a-thalassemia in ten Spanish families. The a,-globin gene was characterized in ten unrelated patients and their relatives only when the presence of deletional a-thalassemia was ruled out. The a,-globin gene analysis was performed using the polymerase chain reaction (PCR) followed by restriction enzyme analysis or by allelespecific priming. This allowed the identification of a 5-base pair (bp) deletion at the donor site of IVS I (aHPha) in 9 cases and the a, initiation codon mutation (aNcoa) in one case. Although these a2-globin gene mutations are found in other Mediterranean areas, our results demonstrate their presence in the Spanish population and suggest that the a H P h d genotype is probably the most common nondeletional form of a-thalassemia in