ABSTRACT
BACKGROUND: We explored the potential relationship between steady state serum bilirubin levels and the incidence of cholelithiasis in the context of UGT1A1 gene A(TA)nTAA promoter polymorphism in Omani sickle cell anemia (SCA) patients, homozygotes for African (Benin and Bantu) and Arab-Indian ß(S) haplotypes, but sharing the same microgeographical environment and comparable life style factors. METHODS: 136 SCA patients were retrospectively studied in whom imaging data including abdominal CT scan, MRI or Ultrasonography were routinely available. Available data on the mean steady state hematological/biochemical parameters (n=136), ß(s) haplotypes(n=136), α globin gene status (n=105) and UGT1A1 genotypes (n=133) were reviewed from the respective medical records. RESULTS: The mean serum total bilirubin level was significantly higher in the homozygous UGT1A1(AT)7 group as compared to UGT1A1(AT)6 group. Thus, not cholelithiasis but total serum bilirubin was influenced by UGT1A1 polymorphism in this SCA cohort. CONCLUSION: As observed in other population groups, the UGT1A1 (AT)7 homozygosity was significantly associated with raised serum total bilirubin level, but the prevalence of gallstones in the Omani SCA patients was not associated with α thalassaemia, UGT1A1 polymorphism, or ß(s) haplotypes.
ABSTRACT
OBJECTIVES: Regular blood transfusions are essential for patients with thalassaemia major. However, infections with hepatotropic viruses remain a major concern. The objective of this study was to evaluate the prevalence and characteristics of hepatitis C viral (HCV) infection among patients with homozygous beta thalassaemia in a single centre in Oman. METHODS: A retrospective chart review of 200 patients treated at the Thalassemia Unit of Sultan Qaboos University Hospital (SQUH) in Muscat, Oman, between August 1991 and December 2011 was performed. Relevant demographic and clinical characteristics were collected, including age, gender, HCV status and the presence of endocrinopathies. RESULTS: A total of 81 patients (41%) were found to be anti-HCV-antibody (anti-HCV)-positive. HCV ribonucleic acid tests were performed on 65 anti-HCV-positive patients and were positive among 33 (51%); the remaining 16 patients died before these tests were available. Anti-HCV-positive patients were significantly older than anti-HCV-negative patients (P <0.001) and were more likely to be diabetic than anti-HCV-negative patients (27% versus 8%; P <0.001). A total of 100 patients had been transfused before they were transferred to SQUH in 1991; of these, 70 (70%) were anti-HCV-positive. Only 11 (11.5%) of the 96 patients who were seronegative in 1991, or who were transfused later, became seropositive. CONCLUSION: It is likely that the high prevalence of HCV among multi-transfused thalassaemic patients in Oman is due to blood transfusions dating from before the implementation of HCV screening in 1991 as the risk of HCV-associated transfusions has significantly reduced since then. Additionally, results showed that anti-HCV-positive patients were more likely to be diabetic than anti-HCV-negative patients.
ABSTRACT
We report here four cases of genital ulcers that developed after the administration of all-trans retinoic acid (ATRA) for the treatment of acute promyelocytic leukemia (APL). Between October 2007 and March 2010, three males and one female (age range 19-35 years) were identified to have genital ulcers after being prescribed all-trans retinoic acid (ATRA) as a part of chemotherapy for APL. This is the first series of cases describing genital ulcers, as a unique and rare complication of ATRA used for treatment of APL in these patients, with no other cause identified. Following temporary cessation of ATRA for a few days in these three cases, improvement of the ulcers was noted.
