Screening for thalassemia

Cao, Antonio; Rosatelli, C; Monni, Giovanni; Galanello, Renzo

doi:10.1016/s0889-8545(01)00006-7

Cited by 125 publications

(108 citation statements)

References 43 publications

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“…Several programs, with the aim of preventing homozygous b thalassemia, based on carrier screening and counseling of couples at marriage; preconception or early pregnancy, are operating in several at-risk populations in Mediterranean areas [6,7].…”

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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“…The decrease in birth prevalence of haemoglobinopathies is based on identifying individuals at risk through carrier screening programs or family history and providing adequate information on risk and possibilities to reduce that risk. Typically, screening for carriers of beta-thalassaemia commences with findings of reduced red blood cell indices in full blood examinations, prompting analysis of haemoglobin, but haemoglobin analysis is often required as a starting point for alpha-thalassaemia and sickle cell carriers and those who might be double heterozygotes, and many different testing procedures are used (Cao et al 2002). In some countries, population-based carrier screening programs have long been established resulting in decrease in levels of birth prevalence ranging between 80 and 100% (Angastiniotis and Modell 1998), whereas in other countries difficulties arise either with accessing immigrant at-risk populations within the country or because resources in developing countries are inadequate for a variety of reasons (Angastiniotis and Modell 1998).…”

Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

“…Early successful haemoglobinopathy (mostly beta-thalassaemia) screening programs commenced in the 1970s in Greece, Sardinia, continental Italy and Cyprus (although here the program has since become quasi-mandatory) (Cao et al 2002). All programs utilised intensive public awareness and education media campaigns, training for a range of health professionals, and was targeted to adults of child-bearing age: premarital, preconceptional and prenatal.…”

Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

“…All programs utilised intensive public awareness and education media campaigns, training for a range of health professionals, and was targeted to adults of child-bearing age: premarital, preconceptional and prenatal. Although, initially, these programs relied heavily on the mass media, in Sardinia 33% of couples were informed through GPs and 23% through obstetricians, which increased over time such that by 2002 more than 70% of the population were given information by physicians (Cao et al 2002). In Sardinia and Cyprus school-based screening has also been introduced (Cao et al 2002).…”

Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

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Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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“…[4] More than 40 different deletional variants of α-thalassaemia have been described. [5] Globally, the majority of α-thalassaemia is caused by the seven deletions tested for in this study. [2] Of 86 subjects in the patient group, 78.0% tested positive for α-thalassaemia PCR, which leaves 22.0% for whom the cause of the microcytosis remains unexplained.…”

Section: Discussionmentioning

confidence: 86%