Nondeletional alpha-thalassemia: First description of alpha(Hph)alpha and alpha(Nco)alpha mutations in a Spanish population

作者：Ayala S; Colomer D; Aymerich M; Pujades A; VivesCorrons JL

来源：American Journal of Hematology, 1996, 52(3): 144-149.

DOI：10.1002/(SICI)1096-8652(199607)52:3<144::AID-AJH3>3.0.CO;2-T

• alpha-thalassemia
• nondeletional mutations
• PCR
• restriction enzyme analysis
• Spain

Several different deletions underlie the molecular basis of alpha-thalassemia. The most common alpha-thalassemia determinant in Spain is the rightward deletion (-alpha(3.7)). To our knowledge, however, no cases of alpha-thalassemia due to nondeletional mutations have so far been described in this particular Mediterranean area, Here, we report the existence of nondeletional forms of alpha-thalassemia in ten Spanish families. The alpha(2)-globin gene was characterized in ten unrelated patients and their relatives only when the presence of deletional alpha-thalassemia was ruled out. The alpha(2)-globin gene analysis was performed using the polymerase chain reaction (PCR) followed by restriction enzyme analysis or by allele-specific priming, This allowed the identification of a 5-base pair (bp) deletion at the donor site of IVS I (alpha Hph alpha) in 9 cases and the alpha(2) initiation codon mutation (alpha Nco alpha) in one case, Although these alpha(2)-globin gene mutations are found in other Mediterranean areas, our results demonstrate their presence in the Spanish population and suggest that the alpha Hph alpha/alpha alpha genotype is probably the most common nondeletional form of alpha-thalassemia in Spain.

• 出版日期1996-7