Beta-globin cluster haplotypes in normal individuals and beta(super 0)39-thalassemia carriers from Sardinia, Italy

Article Abstract:

A study to verify if previous results on the haplotype frequencies of normal individuals are confirmed for beta(super 0)39-thalassemia carriers and to analyze the phylogenetic position of Sardinians among the Mediterranean population using the haplotype frequencies associated with mutations in the beta-globin genes is conducted. It concluded that the haplotype frequencies of the globin cluster in heterozygotes carrying the beta(super 0) mutation have underlined the genetic distinctiveness.

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African gene flow to North Brazil as revealed by HBB(super *)S gene haplotype analysis

Article Abstract:

An analyses of haplotypes linked to the HBB(super *)S gene in chromosomes of Brazilian sickle cell anemia patients from the population of Belem, to evaluate if the present-day haplotype frequencies correlate as expected with historical information on the geographic origin of African slaves sent directly to Northern Brazil. High prevalence of the Benin type in Belem is due to domestic slave trade and later internal migrations.

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Origin and expansion of four different beta globin mutations in a single Arab village

Article Abstract:

Study was carried in a single Arab village, which described three different thalassemia mutations, as well as the sickle-cell mutation. It was revealed that the sickle-cell mutation was prevalent in the village as a result of a founder effect due to a preference for consanguineous marriages.

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