Study of genetic screened newborns for inherited hemoglobinopathies in Al-Najaf Province.

التفاصيل البيبلوغرافية
العنوان: Study of genetic screened newborns for inherited hemoglobinopathies in Al-Najaf Province.
المؤلفون: Al-Akhras, Rashad Kadhim Mahmood, Zayed, Karrar S.
المصدر: AIP Conference Proceedings; 2023, Vol. 2977 Issue 1, p1-7, 7p
مصطلحات موضوعية: NEWBORN infants, GENETIC testing, HEMOLYTIC anemia, ISOELECTRIC focusing, NEWBORN screening, PREMATURE infants, INFANTS, HYDROPS fetalis
مستخلص: Hemolytic anemias, which include hereditary hemoglobinopathies, are a type of blood illness. Hemoglobinopathies are caused by faulty hemoglobin production in general. Around 12% of the world's population is affected with hemolytic anemia. The purpose of our study is focusing on the patients with hemoglobinopathies genetically. The results of newborn genetic screening explore the frequency of hemoglobinopathies are presented in this article. A total of 118 neonates were examined: high percent of sample are taken from Al-Zahraa Hospital and the rest from different Lab.s in Al-Najaf, 63 males and 55 females. Method of isoelectric focusing was used. The findings of "molecular diagnoses" of beta.thalassemia in infants using method of high-temperature allele-specific amplification are investigated. According to a study of genetic hemoglobinopathies in newborn babies' blood serum. The defective samples with S and D hemoglobins, as well as pathogenic alleles of the a-and B-thalassemia genes mutations that cause B-thalassemia have been found. We expect the results of genetic screening will allow unwell youngsters to be treated sooner rather than later before the sickness manifests [ABSTRACT FROM AUTHOR]
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قاعدة البيانات: Complementary Index
الوصف
تدمد:0094243X
DOI:10.1063/5.0181907