Oggiano, Lina and Dore, Fausto and Pistidda, Paola Matilde and Guiso, Luciana and Manca, Laura and Masala, Bruno Lucio and Pirastu, Mario and Rosatelli, Maria Cristina and Cao, Antonio and Longinotti, Maurizio Roberto (1988) Homozygous βd-39 mutation with thalassemia intermedia in Northern Sardinia: clinical, hematological and molecular analysis. Hemoglobin, Vol. 12 (5-6), p. 673-680. eISSN 1532-432X. Article.
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In this study, we investigated the clinical and hematological features and carried out α- and β-globin gene analyses in 11 Sardinian adult βd-thalassemia homozygotes from Northern Sardinia who were not transfusion-dependent. Oligonucleotide analysis revealed in nine out of 11 patients the nonsense mutation at codon 39, which was associated either with haplotype II or IX (14/16 and 2/16 chromosomes, respectively). Haplotype II was linked to the AγT mutation. The Gγ globin level ranged from 50 to 70%. Four out of nine patients (44%) were heterozygous and 3/9 (33%) homozygous for the rightward deletional type of α-thalassemia; two (22%) had the normal α-gene complement. Patients who were α-thalassemia homozygotes (-α/-α) showed a more balanced globin chain synthesis ratio. This study confirms that α-thalassemia may ameliorate the clinical picture of homozygous βd-thalassemia.
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