Control of β‐thalassaemia by Carrier Screening, Genetic Counselling and Prenatal Diagnosis: The Sardinian Experience

Cao, Antonio; Rosatelli, Maria Cristina; Galanello, Renzo

doi:10.1002/9780470514887.ch8

Cited by 41 publications

(39 citation statements)

References 23 publications

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“…Cao et al [8] reported reduction of the birth rate of thalassaemia major from 1:250 live births to 1:4,000 in Turkey after execution of comprehensive genetic preventive programme based on voluntary screening and nondirective counseling. ACOG recommends screening for b thalassemia in couples of Mediterranean society.…”

Section: Discussionmentioning

confidence: 99%

Carrier Screening for β Thalassemia in Pregnant Indian Women: Experience at a Single Center in Madhya Pradesh

Baxi¹,

Kaushal²,

Kadhi³

et al. 2012

Indian J Hematol Blood Transfus

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To study the prevalence of b thalassemia trait in pregnancy in urban population screening for b thalassemia in pregnant women at a single center in Indore (MP) has been conducted for a period of 2 year. Blood samples were tested for complete blood count and hemoglobin electrophoresis. During the 2 year period a total of 1,006 women were screened; 28 women who carried abnormal pattern were detected. The mean gestational age for screening was 13 ± 4 weeks. The prevalence of carriers was 2.78 %. As much as 99 % of pregnant women undergoing screening were willing for prenatal diagnosis if required. The economic burden to the society for treating thalassemic patients is huge. The institution of prevention programs like carrier screening has proven costeffective in populations with a high frequency of carriers. Screening of pregnant women early in pregnancy followed by prenatal diagnosis is acceptable and effective strategy for control of thalassemia in developing countries like India.

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Section: Discussionmentioning

confidence: 99%

Carrier Screening for β Thalassemia in Pregnant Indian Women: Experience at a Single Center in Madhya Pradesh

Baxi¹,

Kaushal²,

Kadhi³

et al. 2012

Indian J Hematol Blood Transfus

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“…A major outcome of thalassaemia carrier screening is a reduction in the incidence of thalassaemia. 25,[49][50][51] The main factors that can lead to a reduction in disease incidence is an increase in the uptake of prenatal diagnosis and use of reproductive technologies to prevent the births of affected children, 52 as well as a decrease in marriages between carriers. In many countries, a large majority of the affected foetuses detected are terminated.…”

Section: Mandatory Screeningmentioning

confidence: 99%

“…The voluntary carrier screening programme, which began in Sardinia, Italy, in 1975 reduced the incidence of b-thalassaemia from 1:250 to 1:4000 in 1995. 50 All of the carrier couples originally identified as carriers in a high school screening programme in Montreal, Canada, chose prenatal diagnosis, and all affected foetuses were terminated. 27 Therefore, because of this carrier screening programme, no one screened has given birth to an affected child, which has caused a 95% decrease in the incidence of b-thalassaemia in that region.…”

Section: Mandatory Screeningmentioning

confidence: 99%

Carrier screening for Beta-thalassaemia: a review of international practice

et al. 2010

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b-thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia carrier screening is the most widely performed genetic screening test, occurring in many different countries. b-thalassaemia carrier screening programmes provide a unique opportunity to compare the delivery of carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key characteristics of b-thalassaemia carrier screening programmes implemented in countries across the world so that the differences and similarities between the programmes can be assessed. The manner in which thalassaemia carrier screening programmes are structured among different populations varies greatly in several aspects, including whether the programmes are mandatory or voluntary, the education and counselling provided and whether screening is offered pre-pregnancy or antenatally. National and international guidelines make recommendations on the most appropriate ways in which genetic carrier screening programmes should be conducted; however, these recommendations are not followed in many programmes. We discuss the implications for the ethical and acceptable implementation of population carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes, despite the fact that thalassaemia screening is so commonly conducted.

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“…1 Because the treatment available for this condition is unsatisfactory, prevention either by premarital screening or prenatal diagnosis has always been a useful option for couples at risk. 2,3 Prenatal preventive strategies used by at-risk populations differ according to the economic, cultural and religious variations observed in these populations. In European countries such as Turkey or Cyprus, advances in carrier diagnosis using haematological analysis followed by mutation analysis has made possible population screening and prenatal diagnosis of women of childbearing age.…”

mentioning

confidence: 99%

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

et al. 2007

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Background: β-thalassaemia is a preventable disease. Iran has about 20,000 homozygote β-thalassaemia patients and 3,750,000 carriers. Objective: To assess the 10-year results of the screening programme, which has been operating in Southern Iran since 1995. Methods: All couples wanting to marry were required to be checked for β-thalassaemia by their red blood cell indices in order to receive a permit for marriage registration. The results were reported to the nearest counselling team. If the results were conspicuous, haemoglobin A2(HbA2) and, in some subjects, Hb electrophoresis was performed. Couples in which both partners were carriers received counselling. For those who, in spite of the recommendation, decided to marry, prenatal diagnosis and termination of pregnancy in case of an affected fetus was offered. The latter was offered only in the last three years. Results: In 1995, 1999 and 2004, 296, 94 and 56 β-thalassaemia homozygotes, respectively, were born (2.53, 1.07 and 0.82 patients per 1000 births). Discussion: This programme has decreased the birth prevalence of β-thalassaemia, but has unfortunately not eliminated the disease altogether. The reasons for the birth of new cases, in spite of the screening programmes, are: (i) premarital screening programme started in 1995; therefore, carrier couples who married before this did not receive counselling and gave birth to homozygote β-thalassaemia children; (ii) unwanted pregnancy among the carrier couples; (iii) the couples knew about their problem, but they married for cultural and religious causes (illegal marriages).

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Control of β‐thalassaemia by Carrier Screening, Genetic Counselling and Prenatal Diagnosis: The Sardinian Experience

Cited by 41 publications

References 23 publications

Carrier Screening for β Thalassemia in Pregnant Indian Women: Experience at a Single Center in Madhya Pradesh

Carrier Screening for β Thalassemia in Pregnant Indian Women: Experience at a Single Center in Madhya Pradesh

Carrier screening for Beta-thalassaemia: a review of international practice

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

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