Browsing by Subject "hereditary hemolytic anemia"

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    Incidence of severe glucose-6-phosphate dehydrogenase (G6PD) deficiency in countryside villages of the central city of Manisa, Turkey
    (TIP ARASTIRMALARI DERNEGI, 2006) Minareci E.; Uzunoǧlu S.; Minareci O.
    Aim: The primary objective of this study was to determine the incidence of severe G6PD deficiency in selected countryside villages of central city of Manisa in Turkey. Secondarily to inform and protect G6PD deficient people from acute hemolytic crisis and neonatal jaundice by delivery of the updated protective food and drug list prepared in the light of the WHO- G6PD Working Committe reports. Methods: In this study, the incidence of severe G6PD deficiency were screened by Beutler's Fluorescence Spot test among 1604 people living in the contryside villages of central city of Manisa in Turkey. Results: Thirty five out of 1604 tested people were found to have severe G6PD deficiency. The incidence of severe G6PD deficiency were 2.2 % in sampled population. There was a difference for the incidence between male (3.2%) and female (1.14%) as expected due to X-linked heritance. There was no significant differences in the prevalence of severe G6PD deficiency between the countryside villages connected to central city of Manisa. Conclusion: The high incidence of severe G6PD deficiency implies that this inherited metabolite disorder is an important health problem in Manisa region and it is necessary to carry out large-scale screening in the whole population since severe- full G6PD deficiency related health problems are preventable. For this reason it must be included in the pool of genetic screening tests in regional health policy.
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    Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
    (John Wiley and Sons Inc, 2024) Isik E.; Aydinok Y.; Albayrak C.; Durmus B.; Karakas Z.; Orhan M.F.; Sarper N.; Aydın S.; Unal S.; Oymak Y.; Karadas N.; Turedi A.; Albayrak D.; Tayfun F.; Tugcu D.; Karaman S.; Tobu M.; Unal E.; Ozcan A.; Unal S.; Aksu T.; Unuvar A.; Bilici M.; Azik F.; Ay Y.; Gelen S.A.; Zengin E.; Albudak E.; Eker I.; Karakaya T.; Cogulu O.; Ozkinay F.; Atik T.
    Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction. Results: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR. Conclusions: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success. © 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.