Prenatal and newborn screening for hemoglobinopathies

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Prenatal and newborn screening for hemoglobinopathies.

The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identi...

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Newborn screening for hemoglobinopathies in California.

BACKGROUND Newborn screening (NBS) for hemoglobinopathies facilitates early identification of affected individuals to ensure the prompt institution of comprehensive medical care for affected newborns in California. When linked to extensive follow-up and education, NBS has been shown to significantly reduce mortality in children with sickle cell disease. Due to changing immigration patterns from...

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Newborn screening for non-sickling hemoglobinopathies.

The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Non-sickling disorders are found primarily in individuals of Mediterranean, Asian and Southeast Asian ancestry. With rapid growth in the Asian and Hispanic segments of the US population, the geographic distribution of hemoglobinopathies is expected to bec...

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Antenatal screening for identification of couples for prenatal diagnosis of severe hemoglobinopathies in surat, South gujarat.

PURPOSE Our aim was to identify couples at risk of having a homozygous or compound heterozygous child with a severe hemoglobinopathy by antenatal screening and prenatal diagnosis in Surat, South Gujarat. METHOD Pregnant women were screened for hemoglobinopathies by means of red cell indices, the solubility test, cellulose acetate electrophoresis tests, and confirmation by HPLC. Husbands of th...

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Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.

Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation. Since then, the molecular definition of the β-globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal ...

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ژورنال

عنوان ژورنال: International Journal of Laboratory Hematology

سال: 2013

ISSN: 1751-5521

DOI: 10.1111/ijlh.12076