Thalassaemia types and their incidence in Sardinia.

Abstract

SUMMARY The frequency of thalassaemia syndromes in Sardinia was examined by a population survey. The data indicate that about 12.6% of the Sardinian subjects are carriers of,B-thalassaemia, while 6.9% of the population carries an -thalassaemia gene, with a slight difference between the various provinces. These are among the highest frequencies of thalassaemia genes found in a Caucasian population today.A survey of hospital inpatients and outpatients showed a newborn incidence of homozygous ,6-thalassaemia of 1 in 300. The reasons for the difference between the expected and observed incidence figures are discussed. Moreover, 3 subjects with 5,f-thalassaemia trait, 6 carriers of heterocellular persistence of fetal haemoglobin (HPFH), 1 sickle cell trait, and 3 subjects with Hb J Sardegna were found.Genetic heterogeneity of fJ-thalassaemia syndromes in this population may generally result from the interaction of a-and fl-thalassaemia genes.The incidence and distribution of thalassaemia syndromes in Sardinia have been previously investigated (Silvestroni and Bianco, 1960;Carcassi, 1963;Siniscalco et al., 1966

Evaluation of single‐tube osmotic fragility as a screening test for thalassemia

“…Much more recently, the use of a modified single-tube osmotic fragility test as a simple test to screen for thalassemias has been proposed for use in laboratories in developing countries. Different studies have recommended the use of 0.32%, 0.34%, 0.36%, and 0.40% buffered saline solutions [2][3][4][5]. In one direct comparison, a 0.36% solution provided a more sensitive test but was less specific than a 0.32% solution [3].…”

Influence of β0-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia

“…[5][6][7] One of the well-known genetic features of the Sardinian population is the high prevalence of some genetic disorders of erythrocytes, such as thalassemias, and deficiency of glucose-6-phosphate dehydrogenase. 8,9 It has been estimated that 13% to 33% of Sardinians carry 1 mutant allele of the ␣-globin genes, that 6% to 17% are ␤-thalassemia carriers, 8 and that 4% to 19% are carriers of glucose-6-phosphate dehydrogenase deficiency. 9 The high prevalence of these disorders appears to be the result of a selective advantage produced by malaria, which was endemic in Sardinia up to the late 1950s.…”

Effectiveness of naked eye single tube osmotic fragility test for screening of beta-thalassemia trait from north Maharashtra region, India

“…Earlier studies have recommended the use of 0.32%, 0.34%, 0.36% and 0.40% buffered saline solutions. [6][7][8][9] However, 0.36% solution was comparatively more sensitive but less specific than 0.32% solution. 7 Moreover, when the test is intended to screen α0-thalassemia 0.34% solution was recommended with detection of all β-thalassemia traits also being reported.…”