Prenatal and newborn screening for hemoglobinopathies

Cc, Hoppe

doi:10.1111/ijlh.12076

Cited by 36 publications

(24 citation statements)

References 30 publications

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“…Newborn screening (NBS) tests are practiced in developed countries using advanced molecular techniques to facilitate the early diagnosis of haemoglobinopathies for the prevention of complications and management [51]. Due to resource limitation in developing countries like Bangladesh, the application of NBS appears to be unrealistic.…”

Section: Management Practice Of Thalassemia In Bangladeshmentioning

confidence: 99%

Thalassemias in South Asia: clinical lessons learnt from Bangladesh

Hossain

Raheem

Sultana

et al. 2017

Orphanet J Rare Dis

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Thalassemias are emerging as a global public health concern. Due to remarkable success in the reduction of childhood mortality by controlling infectious diseases in developing countries, thalassemias are likely to be a major public health concern in the coming decades in South Asia. Despite the fact that Bangladesh lies in the world’s thalassemia belt, the information on different aspects (epidemiology, clinical course, mortality, complications and treatment outcomes) of thalassemias is lacking. In this comprehensive review, the aim is to to depict the epidemiological aspects of thalassemias, mutation profile and current treatment and management practices in the country by sharing the experience of dealing with 1178 cases over 2009–2014 time periods in a specialized thalassemia treatment centre. We have also discussed the preventative strategies of thalassemias from the context of Bangladesh which could be effective for other developing countries.

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Section: Management Practice Of Thalassemia In Bangladeshmentioning

confidence: 99%

Thalassemias in South Asia: clinical lessons learnt from Bangladesh

Hossain

Raheem

Sultana

et al. 2017

Orphanet J Rare Dis

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“…13 A similar situation exists for cystic fibrosis screening. CNSP introduced newborn screening for cystic fibrosis in 2007 and they report that they identify approximately 70…”

Section: For (Peter Benn)mentioning

confidence: 86%

Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders

2015

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What's already known about this topic?In the United States there is increasing availability of pan‐ethnic carrier screening covering mutations in a large number of genes (“expanded screening”).A large‐scale study on the use of expanded carrier screening has been published by a commercial laboratory offering this test.The American College of Medical Genetics and Genomics has issued a position statement on prenatal/preconception expanded carrier screening. What does the study add?This report summarizes an oral debate presented at the 18th International Conference on Prenatal Diagnosis and Therapy in Brisbane, Australia on 23 July 2014.The benefits, limitations, and challenges of preconception expanded carrier screening are discussed.

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“…It has been actively pursued in many countries, such as Cyprus (23), China (24), Taiwan (25), Iran (26), Turkey (2,27), USA (28), UK (29) and Australia (30). Prenatal diagnosis had a great success in decreasing the number of live births with b-thal major (b-TM) in these countries.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

et al. 2014

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Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14-22 weeks' gestation) were characterized. Molecular screening and direct DNA sequencing of the HBB gene was carried out. DNA analyses showed 14 affected fetuses (25.45%), 32 (58.18%) carriers and eight (14.54%) normal fetuses. It appears that 20.0% of individuals carried the sickle cell anemia mutation and 80.0% carried the β-thal mutation. Thirteen different known mutations were detected in the fetuses. The most common mutations were: IVS-II-1 (G > A), codon 39 (C > T)], IVS-I-110 (G > A), IVS-I-1 (G > A) and IVS-I-5 (G > C). The Hb S [β6(A3)Glu → Val; HBB: c.20A > T] mutation was the only abnormal hemoglobin (Hb) that was found. The results point to a successful future for PND of β-thal and sickle cell anemia in Syria, using a rapid and accurate molecular method. We hope that this method will be used as a common application approach to decrease the incidence of β-thal major (β-TM).

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Prenatal and newborn screening for hemoglobinopathies

Cited by 36 publications

References 30 publications

Thalassemias in South Asia: clinical lessons learnt from Bangladesh

Thalassemias in South Asia: clinical lessons learnt from Bangladesh

Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders

Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

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