Epidemiology of sickle cell disease in Saudi Arabia

Sickle cell disease (SCD) is an autosomal recessive disorder characterized by production of abnormal hemoglobin S and is associated with high morbidity and mortality. Information about the prevalence of SCD in Saudi Arabia is patchy and probably underestimated, but studies have reported that SCD is a relatively common genetic disorder in this part of the world. The prevalence of SCD in Saudi Arabia varies significantly in different parts of the country, with the highest prevalence is in the Eastern province, followed by the southwestern provinces. The reported prevalence for sickle-cell trait ranges from 2% to 27%, and up to 2.6% will have SCD in some areas. Clinical and hematological variability exists in SCD in Saudi Arabia with two major phenotypes: a mild phenotype and a severe phenotype. Further studies on the prevalence, molecular and clinical epidemiology of SCD may help predict disease severity and risk stratification of patients to determine whether to receive early intensive care or continued symptomatic care

Is the outcome of childhood acute myeloid leukemia with t(8;21) inferior in Saudi Arabia? A multicenter SAPHOS leukemia group study

Background: Despite the confirmed favorable prognosis of childhood t(8;21) acute myeloid leukemia (AML), recent reports suggest heterogeneity in survival outcomes in this subtype of AML may be influenced by ethnicity. Therefore, we aimed to assess the outcome of childhood t(8;21) AML in an Arab population to evaluate if survival outcomes were inferior and determine the predictive relevance of additional cytogenetic abnormalities. Methods: This multicenter retrospective study analyzed 175 de novo AML children of 14 years of age or younger consecutively diagnosed between January 2005 and December 2012. Survival outcomes were analyzed and patients with t(8;21) were stratified on the basis of karyotype into sole and additional cytogenetic groups. Results: A total of 33 (18.9%) patients had t(8;21) AML. Complete remission (CR) was achieved in 31 (93.9%) patients. The 5-year overall survival, event-free survival, cumulative incidence of relapse (CIR), and remission death rates were 59.9 ± 9.2, 45.6 ± 9.1, 36.4, and 9.1%, respectively. Despite the administration of hematopoietic stem-cell-transplant salvage therapy in first relapse, five out of 11 (45.5%) relapsed patients died of disease. Subanalysis of sole vs. additional cytogenetic abnormalities revealed no significant difference in outcome. Conclusion: In the present study, childhood t(8;21) AML was associated with inferior survival and resistance to salvage therapy compared to reports from international groups. The inferior outcomes were unrelated to additional cytogenetic abnormalities. Further detailed genetic studies are warranted to unmask the biological and clinical differences between racial/ethnic groups. Given the high CR rate of childhood t(8;21) AML, further modification of postremission therapy to improve the CIR rate is needed

Impact of sickle cell disease on patientsʼ daily lives, symptoms reported, and disease management strategies: Results from the international Sickle Cell World Assessment Survey (SWAY)

Sickle cell disease (SCD) is a genetic disorder, characterized by hemolytic anemia and vaso-occlusive crises (VOCs). Data on the global SCD impact on quality of life (QoL) from the patient viewpoint are limited. The international Sickle Cell World Assessment Survey (SWAY) aimed to provide insights into patient-reported impact of SCD on QoL. This cross-sectional survey of SCD patients enrolled by healthcare professionals and advocacy groups assessed disease impact on daily life, education and work, symptoms, treatment goals, and disease management. Opinions were captured using a Likert scale of 1-7 for some questions; 5-7 indicated “high severity/impact.” Two thousand one hundred and forty five patients (mean age 24.7 years [standard deviation (SD) = 13.1], 39% ≤18 years, 52% female) were surveyed from 16 countries (six geographical regions). A substantial proportion of patients reported that SCD caused a high negative impact on emotions (60%) and school achievement (51%) and a reduction in work hours (53%). A mean of 5.3 VOCs (SD = 6.8) was reported over the 12 months prior to survey (median 3.0 [interquartile range 2.0-6.0]); 24% were managed at home and 76% required healthcare services. Other than VOCs, fatigue was the most commonly reported symptom in the month before survey (65%), graded “high severity” by 67% of patients. Depression and anxiety were reported by 39% and 38% of patients, respectively. The most common patient treatment goal was improving QoL (55%). Findings from SWAY reaffirm that SCD confers a significant burden on patients, epitomized by the high impact on patientsʼ QoL and emotional wellbeing, and the high prevalence of self-reported VOCs and other symptoms