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)

Objective: The aim of the study was to look at the long-term effects of conservative management of odontoid peg fractures. Methods: We reviewed 48 consecutive patients with type II (32) and 16 type III, odontoid peg fractures. The clinical & radiological outcomes were assessed over an average period of follow up of 8 years. Union rate was determined and we discussed several factors that may affect it. Patients were treated conservatively with an average period of bed rest of 4 weeks followed by bracing for an average of 9 weeks. Results: Bony unionwas established in 25 of 32 (78%) type II fractures. Of 7 cases of no bony union 4 were stable probably with fibrous union. 3 remained unstable. In 13 of 16(83%) type III fractures bony union was established. 2 of the 3 with no bony union were considered stable. Conclusion: Osseous non-union was higher in patients with displacement of >5mm, but there is no correlation between union and age, gender or angulation of the fracture in both types. arabic 10 English 60
Nabil A. Alageli(6-2017)

Background: Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme that catalyses the S-methylation of 6-mercaptopurine and azathioprine. Low activity phenotypes are correlated with polymorphism in the TPMT gene. Patients with low or undetectable TMPT activity could develop severe myelosuppression when they are treated with standard doses of thiopurine drugs. Since ethnic differences in the TPMT gene polymorphism have been demonstrated worldwide, assessing it in the Libyan population is worthwhile. Methods: We investigated TPMT gene polymorphism in a total of 246 Libyan healthy adult blood donors from three different Libyan regions (Tripoli, Yefren, and Tawargha) and 50 children with acute lymphoblastic leukaemia (ALL). We used polymerase chain reaction restriction length polymorphism (PCR-RFLP) and allele-specific PCR-based assays to analyse the TPMT gene for the variants* 2 c. 238 G> C,* 3A (c. 460 G> A and c. 719 A> G),* 3B (c. 460 G> A), and* 3C (c. 719 A> G). Results: Our results show that the TPMT variants associated with low enzymatic activity were detected in 3.25%(8 in 246) of adult Libyan individuals and the frequency of total mutant alleles was 1.63%. Heterozygous genotypes were TPMT* 3A in three subjects (0.61%) and TPMT* 3C in five subjects (1.02%). No TPMT* 2 and TPMT* 3B allelic variants and no homozygous or compound heterozygous mutant alleles were detected. The normal allele (wild-type) was found in 98.4% of the adult individuals studied. No mutant alleles were detected among the 50 children who had ALL. arabic 10 English 74
Hamza Ben Zeglam, Abdulla Bashein, (1-2015)