Background and Aims: Hereditary hemochromatosis (HH) is an autosomal recessive disorder, characterized by increased intestinal absorption of iron. Excessive amount of iron accumulates in the liver, pancreas, and heart, etc., and eventually leading to organ failure due to iron toxicity and death if untreated. The most common causes of HH are the C282Y and H63D mutations in HFE gene. This study aimed to identify the prevalence of H63D and C282Y alleles among the Libyan population in Tripoli region and to compare the results with other published data. Materials and Methods: This study included 300 randomly selected unrelated Libyan male blood donors, aged between 18 and 50 years. In‑house hydrolysis probe real‑time polymerase chain reaction and high‑resolution melting analysis protocols were developed and employed as screening tools for H63D and C282Y genotyping, respectively, and direct DNA sequencing was used to confirm the results. Results: Seven subjects (2.33%) were detected as homozygous H63D mutation and 72 (24%) were detected as heterozygous, and only one subject was detected as a heterozygous C282Y mutant (0.33%) and no homozygous C282Y mutation was detected. Conclusion: In Libyans residing in Tripoli region, the allele frequency of C282Y was very rare and allele frequency of H63D was common arabic 17 English 89
Laila Mohamed Elghawi, Abdulla Bashein(7-2021)

Bulgular: 791 çocuktan (421 erkek, 370 kız, ortalama yaş 6.5) alınan örnekler test edildi. Tüm çocuklar hayatlarının ilk iki yılında 4 doz tam hücreli boğmaca aşısı ile aşılanmıştı. Yakın zamanda gerçekleşen ve gerçekleşmeyen boğmaca enfeksiyonu sıklığı sırasıyla% 4.8 ve% 2.5 idi. Çocukların% 76.1’i tespit edilemeyecek düzeyde IgG’ye sahipti. Sonuç: Çalışma boğmaca enfeksiyonun okula başlayan çocuklar arasında sık olarak geçirildiğini göstermiştir. Bu artış, okula başlama yaşındaki çocukların% 76.1’inde serumda boğmacaya karşı antikor düzeyinin tespit edilemeyecek düzeyde olmasının dolaylı bir sonucu olması ile açıklanmıştır. arabic 26 English 62
Suleiman Abusrewil, Abdulla Bashein, (1-2021)

Abstract: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder of lipid metabolism, associated with elevated levels of low-density lipoprotein-cholesterol (LDLC), which can lead to premature cardiovascular disease and early death. Early diagnosis and initiation of treatment is important to prevent morbidity and mortality. Autosomal dominant hypercholesterolemia (ADH) is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). In this study, genomic DNA of unrelated Libyan individuals with clinically diagnosed (FH) was analyzed by direct sequencing after dependent specific PCR primers amplification and DNA purification. That led to the identification of PCSK9 gene mutations for the first time in Libyan population which was compare to other populations. All 12 exons of PCSK9 gene and boundaries genotyped polymorphisms were sequenced, including leucine repeats coded in exon 1, by fluorescently tagged markers. We identified an allele for the rs67610340 polymorphism: an in-frame deletion, c.61_63delCTG (L8). We also identified another allele rs67610340 polymorphism: an in frame insertion c.61_63InsCTG (L10). The insertion and deletion alleles were both in exon 1 and could be associated with a risk and severity of coronary artery disease (CAD), suggesting a direct effect of PCSK9 on atherogenesis. arabic 11 English 90
Ghada Salem, Ahmed Zaid(1-2017)