Background: The first survey on sickle cell disease (SCD) done in Uganda in 1949, reported the district of Bundibugyo in Western Uganda to have the highest sickle cell trait (SCT) prevalence (45%). This is believed to be the highest in the whole world. According to the same survey, the prevalence of SCT in the districts of Mbale and Sironko in the East was 20-28%, whilst the districts of Mbarara and Ntungamo in the West had 1-5%. No follow-up surveys have been conducted over the past 60 years. SCA accounts for approximately 16.2% of all pediatric deaths in Uganda. The pattern of SCT inheritance, however, predicts likely changes in the prevalence and distribution of the SCT. The objective of the study therefore was to establish the current prevalence of the SCT in Uganda.
Methods: This study was a cross sectional survey which was carried out in the districts of Mbale and Sironko in the Eastern, Mbarara/Ntungamo and Bundibugyo in Western Uganda. The participants were children (6 months-5 yrs). Blood was collected from each subject and analyzed for hemoglobin S using cellulose acetate Hb electrophoresis.
Results: The established prevalence of the SCT (As) in Eastern Uganda was 17.5% compared to 13.4% and 3% in Bundibugyo and Mbarara/Ntungamo respectively. 1.7% of the children in Eastern Uganda tested positive for haemoglobin ss relative to 3% in Bundibugyo, giving gene frequencies of 0.105 and 0.097 for the recessive gene respectively. No ss was detected in Mbarara/Ntungamo.
Conclusions: A shift in the prevalence of the SCT and ss in Uganda is notable and may be explained by several biological and social factors. This study offers some evidence for the possible outcome of intermarriages in reducing the incidence of the SCT.
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http://dx.doi.org/10.1186/1471-2326-10-5 | DOI Listing |
Front Mol Biosci
December 2024
Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, Atlanta, GA, United States.
Introduction: Sickle cell disease (SCD) is a genetic blood disorder caused by a mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. This mutation leads to the production of abnormal hemoglobin S (HbS), causing red blood cells to deform into a sickle shape. These deformed cells can block blood flow, leading to complications like chronic hemolysis, anemia, severe pain episodes, and organ damage.
View Article and Find Full Text PDFAdv Hematol
December 2024
Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Universal in the United States (US) since 2006, newborn screening (NBS) programs for sickle cell disease (SCD) allow for early identification of the disease and, as an unintentional byproduct, identification of sickle cell trait (SCT). Unlike other carrier states, SCT is highly prevalent and is found in nearly 3 million Americans, which results in important reproductive implications. Currently, all NBS programs in the US are responsible for their own policies regarding SCT notification, and little is known about how SCT notification practices are performed and how these practices vary across NBS programs.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
December 2024
Department of Obstetrics and Gynecology, Helsinki University Women's Hospital, Haartmaninkatu 2, Helsinki, 00029, Finland.
Background: An increasing number of childbearing-aged women have undergone bariatric surgery (BS). Although pregnancy outcomes generally improve after BS, concern remains over the impact of rapid weight loss and the catabolic state that occurs soon after BS. At least a 12-month surgery-to-conception time (SCT) is recommended, though the reasoning behind this has been questioned.
View Article and Find Full Text PDFBlood Genom Discov
October 2024
Department of Pathology and Laboratory Medicine, University of Vermont Larner College of Medicine, Burlington, VT 05405, USA.
Sickle cell trait (SCT) has been associated with alterations in various immune-related laboratory parameters including lower circulating lymphocyte counts. To further characterize the impact of SCT on the immune system, we performed flow cytometry of monocyte and lymphocyte immune cell subsets from peripheral blood mononuclear cells collected in a large, community-based cohort of SCT-positive (n = 68) and SCT-negative (n = 959) Black adults. SCT was significantly associated with lower proportions of CD8 and CD4 T cell subsets that include senescent-like markers of repeated immune system challenges.
View Article and Find Full Text PDFTrans R Soc Trop Med Hyg
December 2024
Department of Medical Statistics, School of Public Health, Sun Yat-sen University, 74 Zhongshan 2nd Road, 510080, Yuexiu District, Guangzhou, Guangdong Province, People's Republic of China.
Background: Cognition, behaviours and social environment are associated with Clonorchis sinensis infection, a prevalent liver fluke disease in China. This study aimed to use social cognitive theory (SCT) to investigate these three aspects and their interaction in an endemic area.
Methods: We conducted three semi-structured focus group discussions in Da'ao town, Jiangmen city, Guangdong Province, China.
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