A 12‐year preventive program for β‐thalassemia in Northern Sardinia

Abstract

From 1980 to 1991, 6.3% of the adult population of the province of Sassari, Northern Sardinia, underwent voluntary β‐thalassemia screening. Of the 28 000 subjects examined, 15.7% proved to be heterozygotes for β‐thalassemia. In addition, the screening of 7500 students in 26 villages in Sassari province fixed the frequency of β‐thalassemia in this part of Sardinia at 10.4%. Of the 539 couples at risk to be expected from this figure, the screening detected 43% (234). The data suggest that inductive screening played a major role in the efficiency of this preventive β‐thalassemia program. Follow up of 221 pregnancies found to be at risk for homozygous β‐thalassemia and referred to the Antenatal Diagnosis Service, Cagliari, Southern Sardinia, showed that antenatal diagnosis was carried out in 80% of them. The overall percentage of couples refusing antenatal diagnosis was 10.8%, but over the years the acceptance rate for the procedure increased from 87% to 96%. Atypical hematological findings in 1.5% of 468 members of the couples at risk required globin chain synthesis and molecular analyses to define the precise β‐thalassemia genotype. Heterogeneous “mild”β‐thalassemia mutations as well as coexisting δ‐thalassemia were found in silent type I and type II β‐thalassemia carriers which, without chain synthesis and DNA investigations, would have escaped detection.

Premarital screening for β-thalassaemia in Southern Iran: options for improving the programme

“…Italy (Sardinia), Cyprus, Turkey, Greece, United Kingdom, Nordic countries, Tunisia, Sri Lanka, India, China, Malaysia, Pakistan and Thailand have well established prevention screening and prenatal diagnostic programmes. 3,[8][9][10][11][12][13][14][15][16][17] Figure 3 shows a comparison between the results of the screening programmes established by each country. 18 Screening programmes and prenatal diagnosis in Cyprus, Greece and Italy has accomplished a 100% achievement and the birth prevalence of homozygote b-thalassaemia has reached zero.…”

Obligatory premarital tests for ?-thalassaemia in the Gaza Strip: evaluation and recommendations

“…The HbA 2 values were below the diagnostic levels. Therefore, they were not diagnosed and the individuals were advised regarding the investigation of their blood samples abroad using the DNA technology (Longinotti et al, 1994;Weatherall, 2004). Unfortunately, the investigation of blood samples for the carrier state of b-thalassaemia at the DNA level is not available yet for public and mass screening purposes in the Gaza Strip.…”

“…However, the possibility of silent carrier state and the possibility of missing some carriers could not be excluded. Therefore, DNA study for those cases with mild microcytosis is recommended in order not to miss any carriers (Dore et al, 1992;Longinotti et al, 1994).…”

“…Due to religious restrictions and prohibition of abortion in the Palestinian community, the Palestinian thalassaemia prevention programme excluded the antenatal diagnosis for the fetus from the current programme structure. However, the Palestinian thalassaemia prevention programme resulted in a decline in the number of annual b-thalassaemia major births of 75-80%, which reflects the competitiveness of the Palestinian prevention programme to other prevention programmes, such those adopted in Cyprus, Greece, Italy and Iran (Angastiniotis & Hadjiminas, 1981;Cao et al, 1989;Longinotti et al, 1994;Loukopoulos, 1996;Samavat & Modell, 2004). From the Palestinian experience in preventing thalassaemia, we recommend that the premarital tests for b-thalassaemia should be applied as an obligatory step, particularly in those countries where abortion, and hence the antenatal diagnosis, is not accepted.…”

“…1994). Many countries therefore have started to take preventive measures and implement programmes to minimize the incidence of new homozygous cases resulting from the marriage of carriers (Angastiniotis & Hadjiminas, 1981;Cao et al, 1989;Longinotti et al, 1994;Samavat & Modell, 2004). Moreover, a costbenefit analysis of these prevention programmes showed that the total cost of the programme in preventing the birth of a single child with thalassaemia major was equal to or less than the cost of treating a patient for 1 year (World Health Organization (WHO), 1983;Ostrowsky, Lippman & Scriver, 1985).…”