β‐globin cluster haplotypes in normal individuals and β039‐thalassemia carriers from Sardinia,Italy

Seven polymorphic sites in the β‐globin cluster in association with specific thalassemia mutations were analyzed in a sample from Sardinia, Italy. In order to verify previous works carried out on normal samples (β^A/β^A) and family studies on β‐thalassemia homozygotes individuals, the haplotype frequencies in both normal individuals (β^A/β^A) and β⁰39‐thalassemia carriers (β^A/β⁰) were studied. In our work chromosomes carrying β⁰39 mutation are characterized by a prevalence of haplotype II (? + + ? + + +) (52%) relative to haplotype I (+? ? ? ? + +) (29%), in contrast, among chromosomes with β^A the frequency of haplotype I is much greater than that of haplotype II. These data confirm what was found by other authors. Nevertheless, our results disagree with those of previous studies of Sardinians, both in frequencies values and in the numbers of haplotypes identified. Population analysis performed with samples carrying the β‐thalassemic mutation highlighted the peculiarity of Sardinians with respect to other Mediterranean populations. The Corsican population is most similar to the Sardinian population, confirming previous analyses performed with both classical markers and mitochondrial and genomic DNA. Am. J. Hum. Biol. 17:765–772, 2005. © 2005 Wiley‐Liss, Inc.