ßS globin gene haplotype and the stroke risk among Egyptian children with sickle cell disease.

BACKGROUND AND AIM OF WORK: Sickle cell disease (SCD) is an inherited disease of the beta globin gene. The ßS globin gene haplotypes are Senegal, Benin, Bantu, Cameroon, Arab-Indian and atypical haplotypes. In SCD, stroke is a life-threatening event in both adults and children. In light of paucity of studies on ßS globin gene haplotypes in Egypt, we aimed to determine ßS globin gene haplotypes in children with SCD and study their impact on stroke risk. METHODS: Fifty-two SCD patients were included in the study, they were 26 males and 26 females with age range from 3 to 18 years old. The PCR-RFLP technique was used for the determination of ßS globin gene haplotypes. Transcranial Doppler (TCD) was done to identify patients at risk of stroke. RESULTS: Benin/Benin was the most prevalent haplotype detected in 50% followed by Benin/Bantu in 30.8% of studied patients. TCD study showed that 14/52 (26.9%) patients had abnormally high TCD flow velocities (TCD velocities ≥170 cm/s) and thus considered high stroke risk group, whereas 38/52 (73.1%) patients had TCD flow velocities <170 cm/s and are considered low stroke risk group. Stroke risk was not found to be associated with ßS globin gene haplotype (p = .532). CONCLUSION: This study provides a relevant contribution to our understanding of the anthropological and historical background of the population in Egypt where Benin haplotype is the commonest ßS globin gene haplotype and homozygous Benin/Benin is associated with higher stroke risk than other haplotypes.

Influence of iron regulating genes mutations on iron status in Egyptian patients with sickle cell disease.

Mutations of the HAMP gene and HFE gene have a role in iron overload. We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gene and the correlation between these mutations as well as the correlation between them and the iron overload in sickle cell disease (SCD) patients. Genotyping of G71D of HAMP and of H63D of HFE variants was performed by polymerase chain reaction-restriction fragment length polymorphism on 47 SCD patients and 45 controls. The iron status was assessed by serum ferritin and transferrin saturation. We found 61.7% of the patients had a wild genotype in both genes, 14.9% had a variation in HAMP-G71D, 27.7% had a variation in HFE-H63D, and 4.3% had variations in both. Patients with either HAMP-G71D or HFE-H63D variants did not show significant difference in iron status in comparison to patients with wild type genotypes. Multivariate regression analysis revealed that the number of mutations harbored by the patients tends to affect the serum ferritin level; p=0.07. Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SCD patients; neither of them alone was found to be a major determinant of iron overload in the studied patients. Nevertheless, the number of harboured mutations may increase the probability of iron overload in these patients.

Prevalence of hepatitis C virus infection and human immunodeficiency virus in a cohort of Egyptian hemophiliac children.

BACKGROUND AND OBJECTIVE: The risk of blood-borne infections, especially hepatitis C virus (HCV) and human immunodeficiency virus (HIV) infection still remains in developing countries among children receiving blood products as hemophiliacs, but the risk is not known in Egypt. The objective of this study was to detect the prevalence of HCV and HIV infection among hemophiliac children to know the magnitude of the problem and determine potential risk factors. PATIENTS AND METHODS: This was a cross-sectional study conducted on 100 hemophiliac children that assessed the liver clinically and by laboratory tests. All children were screened for HCV and HIV antibodies by enzyme-linked immunosorbent assay. Those with positive HCV antibody titre were tested by polymerase chain reaction (HCV-PCR). RESULTS: Forty were positive for HCV antibodies with 19 children (47.5%) HCV-PCR positive as well. The mean age, average frequency of bleeds/year, dose of replacement therapy/year and alanine aminotransferase (ALT) levels were significantly high in HCV-antibody and PCR positive patients as compared to HCV antibody and PCR negative ones. None of our patients had clinical evidence of hepatic involvement or was co-infected with HIV. CONCLUSION: HIV infection does not appear to be a current health problem in Egyptian hemophiliac children though the prevalence of HCV infection is still high.