Multi-center study on mortality in children, and adults with sickle cell anemia-risk factors and causes of death.

Sickle cell disease (SCD) is a major public health burden worldwide with increasing morbidity and mortality. The study evaluates the risk factors associated with mortality in SCD patients, between the years 2006 and 2020 at three hospitals in Oman. The analysis includes clinical manifestations, haematological, biochemical, and radiological parameters, use of antibiotics, and blood and exchange transfusions. Our cohort included 123 patients (82 males, 41 females), with a median age of 27 (Interquartile Range 21-35 years). SCD related complications included acute chest syndrome (ACS) in 52.8%, splenic sequestration in 21.1%, right upper quadrant syndrome in 19.5%, more than > 6 VOC/year in 17.9%, and stroke in 13.8%. At the terminal admission, patients had cough, reduced O2 saturation, crepitation and fever in 24.4%, 49.6%, 53.6% and 68.3% respectively. Abnormal chest X-ray and chest CT scan were seen in 57.7%, and 76.4% respectively. Laboratory parameters showed a significant drop in hemoglobin (Hb) and platelet counts from baseline, with a significant rise in WBC, LDH and CRP from baseline (p < 0.05, Wilcoxon Signed Ranks test). All patients received antibiotics, whereas, 95.9% and 93.5% received simple blood transfusions, and exchange transfusions respectively, and 66.6% required non-invasive ventilation. Among the causes of death, ACS is seen in 32 (26%), sepsis in 49 (40%), and miscellaneous in 42 (34%). Sudden death was seen in 32 (26%) of patients. Male gender, with low HbF, rapid drop in Hb and platelet, and increased in WBC, LDH, ferritin, and CRP, correlated significantly with mortality in this cohort.

Subepidermal calcified nodule in upper eyelid: A case report and review of the literature.

Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin and is often associated with autoimmune diseases. A 3-year-old healthy Omani child presented for evaluation of asymptomatic hard nodule on the left upper eyelid. Pathological examination identified the mass as subepidermal calcified nodule. The patient had no history of trauma or metabolic disturbances. Serum levels of calcium and phosphate were normal. Idiopathic calcinosis cutis should be included in the differential diagnosis for eye lid mass.

Transfusion therapy and alloimmunization in Thalassemia Intermedia: a 10 year experience at a tertiary care university hospital.

BACKGROUND: Thalassemia Intermedia (TI) has a wide clinical profile with many patients requiring only occasional transfusions. To prevent alloimmunization, we adopted a policy of issuing phenotype matched red blood cells in 2009. We examined transfusion indications and alloimmunization rate in TI patients. STUDY DESIGN AND METHODS: Clinical and blood bank records of 37 TI patients were reviewed. RESULTS: 23 Patients required transfusion for pregnancy (26), splenectomy (8) and anemia (11). Since 2009, total of 335 units were transfused with only one antibody developing after transfusing a non-phenotype matched unit. CONCLUSION: The commonest indication for blood transfusion was pregnancy. Providing phenotype matched blood has successfully reduced the rate of alloimmunization.

Largest Serous Cystadenoma in the first Trimester treated Laparoscopically: A Case Report.

We report the first case of a giant serous cystadenoma approximately 7.5kg in weight in a 28-year old primigravida at 8 weeks of gestation which was successfully excised laparoscopically. Postoperatively, she had a quick recovery and she was discharged on post op day 3 with an intact pregnancy and no complications. This is the largest ovarian cyst in early pregnancy that has been ever reported from our hospital. We also believe this cyst to be the largest cyst in early pregnancy ever reported in the literature that has been managed by Laparoscopy.

Neonatal Screening: Mean haemoglobin and red cell indices in cord blood from Omani neonates.

OBJECTIVES: The aim of this study was to validate the interpretation of red blood cell indices in complete blood count (CBC) and high performance liquid chromatography (HPLC) results on cord blood samples in consecutive Omani neonates. METHODS: Cord blood samples from 7,837 neonates, were analysed with CBC and HPLC using the ß-thalassaemia short programme. Direct sequencing of abnormal samples with HbS, HbD, HbE and HbC was performed to validate the HPLC results. Additionally, in cases with HbA ß10%, the ß-globin gene was directly sequenced for ß-thalassaemia mutation analysis. RESULTS: Overall, 4,042 subjects (51.58%) had normal HPLC (HbA 22.88±8.03; HbF 77.02±8.04), whereas the presence of Hb Barts in the remaining 3,795 cases (48.42%) indicated the presence of α-thalassaemia. No case of HbH was detected. In the former subgroup respectively, the mean Hb (15.38±2.04 g/dl) red blood cell (RBC) count (4.69±0.68 × 10(12)/l), Hct (50.5±7.18%), mean corpuscular volume (MCV) (107.66±7.75 fl), mean corpuscular haemoglobin (MCH) (33.31±4.07 pg), mean corpuscular haemoglobin concentration (MCHC) (30.98±3.44 g/dl), red cell distribution width (RDW) (17.01±2.17%) whereas, in the latter group with α-thalassaemia, it was (14.79±2.90 g/dl); (5.09±0.77 × 10(12)/l); (49.7±7.40%); (97.29±13.8 fl); (29.74±11.80 pg); (30.39±3.6 g/dl), and (18.09±2.56%) respectively. DNA sequencing of samples with abnormal haemoglobin could validate the CBC and HLPC interpretations in all cases. CONCLUSION: This is the first study comparing the hemoglobin and red cell indices in the cord blood from newborn Omani subjects with those from other countries in the region, showing comparable results to those seen in Saudi neonates. The study also validates the CBC and HPLC interpretations of the cord blood red cell indices in the Omani neonate. The incidence of α-thalassaemia diagnosed by the presence of Hb Barts in cord blood of neonates was 48.42%.

Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates.

To evaluate the incidence of hemoglobinopathies in Omani subjects and to forecast its future burden on health resources, we initiated a prospective neonatal screening program in two major cities of the Sultanate of Oman. Consecutive cord blood samples from a total of 7,837 neonates were analyzed for complete blood counts and for hemoglobin (Hb) profile by high performance liquid chromatography (HPLC). No case with Hb H (beta4) was detected. We observed that the overall incidence of alpha-thalassemia (alpha-thal) was 48.5% [based on the presence of Hb Bart's (gamma4)] and the beta-globin-related abnormalities accounted for 9.5% of the samples (4.8% sickle cell trait, 2.6% beta-thal trait, 0.9% Hb E trait, 0.8% Hb D trait, 0.08% Hb C trait, 0.3% sickle cell disease and 0.08% homozygous beta-thal). This is also the first large study to establish reference ranges of cord red blood cell (RBC) indices for Omani neonates.

NAT2 polymorphism in Omani gastric cancer patients-risk predisposition and clinicopathological associations.

AIM: To study whether N-acetyltransferase 2 (NAT2) genotypes and phenotypes are associated with increased risk factor for gastric cancer in Omani patients and to study the clinico-pathological correlations and the prognostic significance of NAT2. METHODS: Genomic DNA was extracted from peripheral blood of 100 gastric cancer patients and 100 control subjects. NAT2 genotyping was performed using DNA sequencing. The prognostic significance of NAT2 and other clinicopathological features was assessed by univariate and multivariate analyses. RESULTS: We observed no significant association between NAT2 genotypes and phenotypes and gastric cancer risk. The NAT2 phenotype polymorphisms and gastric cancer risk predisposition were not modified by concomitant H pylori infection and smoking. There was no significant association between NAT2 and clinicopathological features, and NAT2 had no independent prognostic significance. CONCLUSION: In the current study, NAT2 genotypes and phenotypes are not associated with gastric cancer risk predisposition. Moreover NAT2 phenotypes had no clinicopathological associations or prognostic significance.

Interleukin-1beta gene (IL-1B) and interleukin 1 receptor antagonist gene (IL-1RN) polymorphisms and gastric cancer risk in an Omani Arab population.

BACKGROUND: Gastric cancer (GC) is the most common malignancy in Oman. Interleukin-1beta gene (IL-1B) and interleukin-1 receptor antagonist gene (IL-1RN) polymorphisms have been associated with increased GC risk. No previous studies have examined their role in an Arab population. We tested the associations between polymorphisms of IL1B at positions -31, -511, and +3954 and the IL-1RN polymorphism [variable number of tandem repeats (VNTR) and TC polymorphism at the -2018 position] and GC in Omani Arab patients. METHODS: Genomic DNA was extracted from peripheral blood of 245 control subjects and 118 gastric cancer patients. The DNA samples were analyzed using the TaqMan allelic discrimination test for IL-1B -31, -511, and +3954 polymorphisms and IL-1RN -2018 polymorphism. The VNTR of IL-1RN was genotyped using the polymerase chain reaction followed by agarose gel electrophoresis. RESULTS: There was an association between the presence of IL-1RN*2 allele and gastric cancer [odds ratio (OR) = 2.2, 95% confidence interval (CI) = 1.0-3.3, P = 0.04). The GC risk further increased to OR = 3.5 (95% CI = 1.0-11.9) in Helicobacter pylori-positive patients. No association was found between any of the other polymorphisms studied and GC. CONCLUSION: IL-1RN polymorphism increased the risk of GC in an Omani Arab population, consistent with previous reports. In contrast, the IL-1B -31 polymorphism was not associated with an increased GC risk. These findings underscore the role of cytokine gene polymorphisms in the development of GC and further support the ethnic differences in the effect of IL-1B polymorphism on GC carcinogenesis.