Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa.

Burkitt lymphoma (BL) is an aggressive B-cell lymphoma that significantly contributes to childhood cancer burden in sub-Saharan Africa. Plasmodium falciparum, which causes malaria, is geographically associated with BL, but the evidence remains insufficient for causal inference. Inference could be strengthened by demonstrating that mendelian genes known to protect against malaria-such as the sickle cell trait variant, HBB-rs334(T)-also protect against BL. We investigated this hypothesis among 800 BL cases and 3845 controls in four East African countries using genome-scan data to detect polymorphisms in 22 genes known to affect malaria risk. We fit generalized linear mixed models to estimate odds ratios (OR) and 95% confidence intervals (95% CI), controlling for age, sex, country, and ancestry. The ORs of the loci with BL and P. falciparum infection among controls were correlated (Spearman's ρ = 0.37, p = .039). HBB-rs334(T) was associated with lower P. falciparum infection risk among controls (OR = 0.752, 95% CI 0.628-0.9; p = .00189) and BL risk (OR = 0.687, 95% CI 0.533-0.885; p = .0037). ABO-rs8176703(T) was associated with decreased risk of BL (OR = 0.591, 95% CI 0.379-0.992; p = .00271), but not of P. falciparum infection. Our results increase support for the etiological correlation between P. falciparum and BL risk.

Closing knowledge gaps among parents of children with sickle cell trait.

BACKGROUND: Despite needing to be informed about sickle cell trait (SCT) status to make informed reproductive decisions, more than 80% of adults with SCT, including parents of children with SCT who have a high prevalence of SCT, do not know their status. PROCEDURE: This was a prospective study of parents who received SCT telephone education from the state department of health and then completed SCTaware, a videoconference-administered SCT education program. The objectives were to evaluate knowledge after telephone education and explore if SCTaware closes knowledge gaps. Participants completed a demographic survey, a health literacy assessment, and reported their SCT status. They completed the Sickle Cell Trait Knowledge Assessment before receiving SCTaware, immediately after, and at follow-up visits; high knowledge was a score of 75% or higher correct. RESULTS: SCTaware and the initial surveys were completed by 61 parents; 45 completed the 6-month surveys. Only 43% of participants had high SCT knowledge after telephone education; 92% achieved high knowledge immediately after, and 84% continued with high knowledge at 6 months. Most parents reported they were aware of their SCT status after telephone education; 12 changed their response after receiving SCTaware. CONCLUSIONS: Our findings suggest that over half of parents have low SCT knowledge following telephone education, and many may be unaware of their status. SCTaware closes knowledge gaps, leads to high sustained knowledge, and is a potentially scalable tool. Future studies should refine SCTaware and determine if parents use their knowledge to inform their children and reproductive decisions.

COVID-19 Infection and Outcomes in Newborn Screening Cohorts of Sickle Cell Trait and Sickle Cell Disease in Michigan and Georgia.

The sickle cell mutation increases morbidity in those with sickle cell disease (SCD) and potentially sickle cell trait, impacting pulmonary, coagulation, renal, and other systems that are implicated in COVID-19 severity. There are no population-based registries for hemoglobinopathies, and they are not tracked in COVID-19 testing. We used COVID-19 test data from 2 states linked to newborn screening data to estimate COVID outcomes in people with SCD or trait compared with normal hemoglobin. We linked historical newborn screening data to COVID-19 tests, hospitalization, and mortality data and modeled the odds of hospitalization and mortality. Georgia's cohort aged 0 to 12 years; Michigan's, 0 to 33 years. Over 8% of those in Michigan were linked to positive COVID-19 results, and 4% in Georgia. Those with SCD showed significantly higher rates of COVID-19 hospitalization than the normal hemoglobin Black cohort, and Michigan had higher rates of mortality as well. Outcomes among those with the trait did not differ significantly from the normal hemoglobin Black group. People with SCD are at increased risk of COVID-19-related hospitalization and mortality and are encouraged to be vaccinated and avoid infection. Persons with the trait were not at higher risk of COVID-related severe outcomes.

Community based screening for sickle haemoglobin among pregnant women in Benue State, Nigeria: I-Care-to-Know, a Healthy Beginning Initiative.

BACKGROUND: Haemoglobin genotype screening at prenatal care offers women an opportunity to be aware of their genotype, receive education on sickle cell disease (SCD) and may increase maternal demand for SCD newborn screening. In developed countries, most pregnant women who access prenatal care and deliver at the hospital receive haemoglobin genotype screening. In settings with low prenatal care attendance and low hospital deliveries, community-based screening may provide similar opportunity for pregnant women. We assessed the feasibility and acceptability of integrating haemoglobin genotype screening into an existing community-based HIV program. METHODS: Onsite community-based integrated testing for HIV, hepatitis B virus and haemoglobin electrophoresis, were conducted for pregnant women and their male partners. Community Health Advisors implementing the NIH and PEPFAR-supported Healthy Beginning Initiative (HBI) program provided education on SCD, collected blood sample for haemoglobin electrophoresis and provided test results to participants enrolled into the HBI program. We concurrently conducted a cross-sectional study using a pretested, semi-structured, interviewer administered questionnaire to collect demographic data and assess awareness of individual haemoglobin "genotype" among HBI pregnant women participants. RESULTS: In this study, 99.9% (10,167/10,168) of pregnant women who received education on SCD accepted and completed the survey, had blood drawn for haemoglobin electrophoresis and received their results. A majority of participating pregnant women (97.0%) were not aware of their haemoglobin "genotype". Among the participants who were incorrect about their haemoglobin "genotype", 41.1% (23/56) of women who reported their haemoglobin "genotype" as AA were actually AS. The odds of haemoglobin "genotype" awareness was higher among participants who were in younger age group, completed tertiary education, had less number of pregnancies, and attended antenatal care. Overall prevalence of sickle cell trait (AS) was 18.7%. CONCLUSIONS: It is feasible to integrate haemoglobin "genotype" testing into an existing community-based maternal-child program. Most pregnant women who were unaware of their haemoglobin "genotype" accepted and had haemoglobin genotype testing, and received their test results. Increasing parental awareness of their own haemoglobin "genotype" could increase their likelihood of accepting newborn screening for SCD.

Haematogenous osteoarticular infections in paediatric sickle cell trait patients: A reality in a tertiary centre in West Africa.

BACKGROUND: Sickle cell trait (SCT) affects at least 5.2% of the world population, and it is considered asymptomatic by medical practitioners. There is a paucity of data regarding SCT paediatric patients and haematogenous osteoarticular infections (HOAIs). In our practice, some children with SCT presented HOAIs. This study aims to describe the pattern of HOAIs in children with SCT admitted in our unit. MATERIALS AND METHODS: A single-centre retrospective study of medical records of SCT paediatric patients treated for HOAIs between January 2012 and June 2019 was performed. The data extracted were epidemiologic (gender, age at diagnosis, history of haemoglobinopathy and ethnic group), diagnostic (time to diagnosis, type of infection and fraction of haemoglobin S [HbS] at standard electrophoresis of Hb), germs and complications. RESULTS: Among 149 patients with haemoglobinopathy treated for HOAIs, 52 have SCT. The prevalence of SCT patients was 34.9%. Thirty-nine (n = 39) records were retained for the study. The average age at diagnosis was 7.18 ± 4.59 years (7 months-15 years). The Malinké ethnic group was found in 22 (56.4%) cases. The mean HbS fraction was 37.2% ± 4.3% (30%-46%). Septic arthritis and osteoarthritis involved the hip in 11 cases, the shoulder in 4 and the knee in 2. Osteomyelitis was acute in 5 cases (11.1%) and chronic in 16 (35.5%). None of the patients has multifocal involvements. Bacterial identification was positive in 17 cases (37.8%). Staphylococcus aureus was involved in 9 cases (52.9%), and in one case, it was Mycobacterium tuberculosis. This patient has abscess of the psoas. No patient was infected by human immunodeficiency virus. The sequelae were joint destruction (n = 2), epiphysiodesis (n = 5) and retractile scars (n = 2). CONCLUSION: Relatively infrequent in our daily practice, SCT patients present with HOAIs. These infections had characteristics that are not very different from the series of the literature.

Extremely high birth prevalence of sickle cell disease in rural Tanzania.

BACKGROUND/OBJECTIVES: Sickle cell disease (SCD) is an important, hidden cause of childhood mortality worldwide. It is most prevalent in sub-Saharan Africa where national newborn screening programs remain unavailable and most children in rural areas are never diagnosed. We conducted a study at a rural district hospital in northern Tanzania to determine the birth prevalence and community awareness of SCD and to determine the feasibility of using point-of-care testing to enroll newborns in a new SCD clinic for ongoing treatment. DESIGN/METHODS: We screened infants at Shirati KMT hospital for SCD using HemoTypeSC, an inexpensive point-of-care test. Infants who screened positive were enrolled in the SCD clinic and instructed to return at 6-12 weeks for confirmatory testing, counseling, and preventive care. RESULTS: A total of 999 newborns were screened from February to September 2019. Among these, 31.6% (315/999) had sickle cell trait and 3.9% (39/999) had SCD. No hemoglobin C was detected. Very few parents knew their own sickle cell status (0.3%). At 5 months after completion, 12 infants from the screening study and 30 additional children had been seen at the SCD clinic for ongoing counseling and care. CONCLUSIONS: Birth prevalence of SCD in rural Tanzania is extremely high and community awareness is low. Newborn point-of-care testing enhances case finding and enables early enrollment in preventive care for SCD, even in rural sub-Saharan Africa with minimal laboratory capacity. SCD-specific clinical services implemented at the district hospital level could expand access to many children and significantly reduce early SCD morbidity and mortality.

Sickle Cell Trait and Risk of Ischemic Stroke in Young Adults.

BACKGROUND AND PURPOSE: Approximately 8% of Blacks have sickle cell trait (SCT), and there are conflicting reports from recent cohort studies on the association of SCT with ischemic stroke (IS). Most prior studies focused on older populations, with few data available in young adults. METHODS: A population-based case-control study of early-onset IS was conducted in the Baltimore-Washington region between 1992 and 2007. From this study, 342 Black IS cases, ages 15 to 49, and 333 controls without IS were used to examine the association between SCT and IS. Each participant's SCT status was established by genotyping and imputation. For analysis, χ2 tests and logistic regression models were performed with adjustment for potential confounding variables. RESULTS: Participants with SCT (n=55) did not differ from those without SCT (n=620) in prevalence of hypertension, previous myocardial infarction, diabetes mellitus, and current smoking status. Stroke cases had increased prevalence in these risk factors compared with controls. We did not find an association between SCT and early-onset IS in our overall population (odds ratio=0.9 [95% CI, 0.5-1.7]) or stratified by sex in males (odds ratio=1.26 [95% CI, 0.56-2.80]) and females (odds ratio=0.67 [95% CI, 0.28-1.69]). CONCLUSIONS: Our data did not find evidence of increased risk of early-onset stroke with SCT.

Epidemiología de la drepanocitosis en países de América Latina y del Caribe / Epidemiology of sickle cell disease in Latin-American and Caribbean Countries

Introducción: La drepanocitosis es la anemia hemolítica congénita más frecuente y representa un problema de salud a nivel mundial. La enfermedad tuvo su origen en el África subsahariana, la cuenca del Mediterráneo y algunas regiones del Medio Oriente y la India. El comercio de esclavos entre 1650-1830 y la dinámica migratoria humana han afectado la distribución de la enfermedad. Objetivo: Describir la epidemiología y estado actual de la drepanocitosis en América Latina. Método: Se realizó una revisión de la literatura a través de los sitios web PubMed, SciElo y el motor de búsqueda Google Académico de artículos publicados en los últimos 10 años. Se utilizaron como términos de búsqueda: drepanocitosis, epidemiología, frecuencia, screening pre- y posnatal, Latinoamérica. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: Las hemoglobinopatías, en particular la drepanocitosis, cobran cada vez mayor importancia a nivel global por su alta frecuencia. El diagnóstico temprano, el uso de penicilina profiláctica en los primeros años de la vida y un mejor conocimiento de los factores genéticos y no genéticos que influyen en la gravedad fenotípica son todavía limitados. Uno de los problemas más críticos en el control y manejo de la esta enfermedad es su extraordinaria variabilidad fenotípica. Conclusiones: Con una atención integral y tratamiento no muy costoso estos pacientes pueden alcanzar la edad adulta con una calidad de vida aceptable, pero desafortunadamente no son tratadas adecuadamente. Sería recomendable que cada país cuente con centros de atención primaria y especializados donde se puedan atender a los pacientes(AU)

Introduction: Sickle cell disease is the most common congenital hemolytic anemia and is a worldwide health concern. The disease originated in Sub-Saharan Africa, the Mediterranean basin, and some regions of the Middle East and India. Slave trade between 1650 and 1830 and human migratory dynamics have affected the distribution of the disease. Objective: To describe the epidemiology and current status of sickle cell disease in Latin America. Methods: A literature review was carried out through the PubMed and SciElo websites, as well as the Google Scholar search engine, of articles published in the last ten years. The search terms were drepanocitosis [sickle cell disease], epidemiología [epidemiology], frecuencia [frequency], screening prenatal y postnatal [pre- and post-natal screening], Latinoamérica [Latin America]. An analysis and summary of the revised bibliography was made. Information analysis and synthesis: Hemoglobinopathies, particularly sickle cell disease, are becoming increasingly important globally, due to their high frequency of appearance. Early diagnosis, the use of prophylactic penicillin in the first years of life, and better understanding of the genetic and non-genetic factors that influence phenotypic severity are still limited. One of the most critical problems in management and control of this disease is its extraordinary phenotypic variability. Conclusions: With comprehensive care and inexpensive treatment, these patients can reach adulthood with acceptable quality of life, but unfortunately they are not treated properly. It would be advisable for each country to have primary and specialized care centers where patients can be cared for(AU)

The prevalence of sickle cell trait in Division I university athletics programs.

Objectives: To determine the prevalence of student-athletes with sickle cell trait (SCT) and describe their demographics, prior knowledge of status, and hemoglobin (Hb) profile. Methods: A retrospective chart review was conducted at two National Collegiate Athletic Association Division I universities. Participants were student-athletes during the 2010/11-2018/19 academic years. The independent variable was SCT status. Main outcome measures included actual prevalence of SCT positive student-athletes, sex, race, sport, prior knowledge of personal and family history SCT status, and Hb profile (HbA, HbA2, HbS, HbF, HbC) proportions. Results: Fifty-three SCT positive student-athletes (13.2 ± 2.0 per academic year) were identified, accounting for ~1% of the student-athlete population annually. The majority were Black/African-American (n = 49, 100.0%; 4 missing) and males (n = 44, 83.0%). Football had the majority (n = 28, 52.8%) of SCT student-athletes. Most student-athletes were unaware of their SCT status (n = 33, 62.3%). There was no difference between actual and expected prevalence of SCT student-athletes overall and by race in any academic year (p > 0.05). Results of Hb electrophoresis testing were available for 44 (83.0%) student-athletes. Average values for HbA, HbA2, HbS, HbF and HbC were 58.54 ± 4.26%, 3.42 ± 0.53%, 37.99 ± 4.60%, 0.17 ± 0.68% and 0.00 ± 0.00%, respectively. Conclusions: Student-athletes with SCT were a small proportion of the student-athlete population. The majority of SCT student-athletes had no prior knowledge of personal or family history; therefore, it is insufficient to rely on self-reported history. No difference was found between actual and expected prevalence of SCT student-athletes. Due to high proportion of student-athletes who are unaware of their SCT status, institutions should facilitate SCT screening with confirmatory testing for all student-athletes to prevent missed identification of those with SCT.

Spatial distribution of newborns with sickle cell trait in sergipe, brazil / Distribuição espacial de recém-nascidos com traço falciforme em sergipe

ABSTRACT Objective: To use the spatial distribution of the sickle cell trait (SCT) to analyze the frequency of hemoglobin S (HbS) carriers in Sergipe. Methods: The sample consisted of all individuals born in Sergipe from October 2011 to October 2012 who underwent neonatal screening in the public health system. Tests were carried out in basic health units and forwarded to the University Hospital laboratory, where they were analyzed. We used spatial autocorrelation (Moran's index) to assess the spatial distribution of heterozygous individuals with hemoglobinopathies. Results: Among 32,906 newborns, 1,202 showed other types of hemoglobin besides Hemoglobin A. We found a positive correlation between the percentage of black and multiracial people and the incidence of SCT. Most SCT cases occurred in the cities of Aracaju (n=273; 22.7%), Nossa Senhora do Socorro (n=102; 8.4%), São Cristóvão (n=58; 4.8%), Itabaiana (n=39; 4.2%), Lagarto (n=37; 4.01%), and Estância (n=46; 4.9%). Conclusions: The spatial distribution analysis identified regions in the state with a high frequency of HbS carriers. This information is important health care planning. This method can be applied to detect other places that need health units to guide and care for sickle cell disease patients and their families.

RESUMO Objetivo: Basear-se na distribuição espacial do traço falciforme (TF) para analisar a frequência dos portadores da hemoglobina S (HbS) em Sergipe. Métodos: A amostra foi constituída por todos os indivíduos nascidos em Sergipe, no período de outubro de 2011 a outubro de 2012, submetidos à triagem neonatal pelo Sistema Único de Saúde, ano de início da triagem universal no Estado. Os testes foram realizados em unidades básicas de saúde e encaminhados para o laboratório do Hospital Universitário, onde foram analisados. A análise da distribuição espacial dos indivíduos heterozigotos para hemoglobinopatias foi realizada por autocorrelação espacial (índice de Moran). Resultados: Dentre os 32.906 recém-nascidos estudados, 1.202 apresentaram outras hemoglobinas além da Hemoglobina A. Houve correlação positiva entre a porcentagem de negros e mestiços e a incidência de TF. A maioria dos casos foi encontrada nos municípios de Aracaju (n=273; 22,7%), Nossa Senhora do Socorro (n=102; 8,4%), São Cristóvão (n=58; 4,8%), Itabaiana (n=39; 4,2%), Lagarto (n=37; 4,01%) e Estância (n=46; 4,9%). Conclusões: Na análise de distribuição espacial por autocorrelação, identificaram-se regiões no Estado com maior frequência de HbS, o que é de extrema importância para o planejamento do sistema de saúde, podendo a mesma metodologia ser aplicada para identificação de outros locais com maior necessidade de centros para cuidados e orientações a portadores de doença falciforme e seus familiares.

Thirty-year risk of ischemic stroke in individuals with sickle cell trait and modification by chronic kidney disease: The atherosclerosis risk in communities (ARIC) study.

Sickle cell trait (SCT) has been associated with hypercoagulability, chronic kidney disease (CKD), and ischemic stroke. Whether concomitant CKD modifies long-term ischemic stroke risk in individuals with SCT is uncertain. We analyzed data from 3602 genotyped black adults (female = 62%, mean baseline age = 54 years) who were followed for a median 26 years by the Atherosclerosis Risk in Communities Study. Ischemic stroke was verified by physician review. Associations between SCT and ischemic stroke were analyzed using repeat-events Cox regression, adjusted for potential confounders. SCT was identified in 236 (7%) participants, who more often had CKD at baseline than noncarriers (18% vs 13%, P = .02). Among those with CKD, elevated factor VII activity was more prevalent with SCT genotype (36% vs 22%; P = .05). From 1987-2017, 555 ischemic strokes occurred in 436 individuals. The overall hazard ratio of ischemic stroke associated with SCT was 1.31 (95% CI: 0.95-1.80) and was stronger in participants with concomitant CKD (HR = 2.18; 95% CI: 1.16-4.12) than those without CKD (HR = 1.09; 95% CI: 0.74-1.61); P for interaction = .04. The hazard ratio of composite ischemic stroke and/or death associated with SCT was 1.20 (95% CI: 1.01-1.42) overall, 1.44 (95% CI: 1.002-2.07) among those with CKD, and 1.15 (95% CI: 0.94-1.39) among those without CKD; P for interaction = .18. The long-term risk of ischemic stroke associated with SCT relative to noncarrier genotype appears to be modified by concomitant CKD.

Serious adverse events in African-American cancer patients with sickle cell trait and inherited haemoglobinopathies in a SEER-Medicare claims cohort.

African-American (AA) cancer patients have long-experienced worse outcomes compared to non-Hispanic whites (NHW). No studies to date have evaluated the prognostic impact of sickle cell trait (SCT) and other inherited haemoglobinopathies, of which several are disproportionately high in the AA population. In a cohort analysis of treated patients diagnosed with breast or prostate cancer in the linked SEER-Medicare database, the relative risk (RR) for ≥1 serious adverse events (AEs), defined as hospitalisations or emergency department visits, was estimated for 371 AA patients with a haemoglobinopathy (AA+) compared to patients without haemoglobinopathies (17,303 AA-; 144,863 NHW-). AA+ patients had significantly increased risk for ≥1 AEs compared to AA- (RR = 1.19; 95% CI 1.11-1.27) and NHW- (RR = 1.23; 95% CI 1.15-1.31) patients. The magnitude of effect was similar by cancer type, and in analyses of AA+ with SCT only. Our findings suggest a novel hypothesis for disparities in cancer outcomes.

Childhood Hearing Loss in Patients With Sickle Cell Disease in the United States.

This study sought to examine if modern medical evaluations including newborn screening and early diagnosis along with better methods of disease control have improved rates of hearing loss in children with sickle cell disease (SCD). Audiometric and medical data for patients with SCD was obtained from the AudGen Database and analyzed for the presence of hearing loss, type of hearing loss, severity of hearing loss, and correlation with comorbid conditions. Children with sickle cell trait (SCT) were used as a comparison group. A total of 189 patients with SCD and 244 patients with SCT had sufficient audiologic data available. Hearing loss was present in 62% of children with SCD and 50% of children with SCT in the study population. Patients with SCD were significantly more likely than those with SCT to have a sensorineural component to their hearing loss (P<0.001, odds ratio: 2.41 [1.53 to 3.79]) and to have severe or profound hearing loss (P=0.02, odds ratio: 4.00 [1.14 to 14.04]). The true prevalence of hearing loss in children with SCD has not been established as routine screening is not being performed. Routine auditory testing should be done for these children to detect this loss before it impacts development.

Prevalência de hemoglobinopatias na população adulta brasileira: Pesquisa Nacional de Saúde 2014-2015 / Prevalence of hemoglobinopathies in the Brazilian adult population: National Health Survey 2014-2015

RESUMO: Objetivo: Descrever a prevalência das hemoglobinopatias da população adulta brasileira, segundo exames laboratoriais da Pesquisa Nacional de Saúde. Métodos: Estudo descritivo realizado com os dados laboratoriais da Pesquisa Nacional de Saúde coletados entre os anos de 2014 e 2015. A pesquisa de hemoglobinopatias foi feita pelo método da cromatografia líquida de alto desempenho. Os resultados dos exames individuais foram interpretados fornecendo os parâmetros normais, homozigotos ou heterozigotos para hemoglobina S, C e D, além de outras eventuais hemoglobinopatias. Foram estimadas prevalências das hemoglobinopatias segundo sexo, cor da pele, região, idade e escolaridade. Resultados: Houve presença de hemoglobinopatias em 3,7% da população. As principais foram o traço falciforme (2,49%), a talassemia menor (0,30%) e a suspeita de talassemia maior (0,80%). Em relação ao traço falciforme e à suspeita de talassemia maior, houve diferença estatisticamente significativa para a variável cor da pele (p < 0,05). As prevalências encontradas para traço falciforme segundo cor de pele foram: preta (4,1%), parda (3,6%), branca (1,2%) e outras (1,7%). Conclusão: As hemoglobinopatias mais prevalentes foram o traço falciforme e a talassemia menor, predominando entre pretos e pardos. O estudo ajuda na identificação das hemoglobinopatias e no aconselhamento genético na preconcepção.

ABSTRACT: Objective: To describe the prevalence of hemoglobinopathies in the Brazilian adult population, according to laboratory tests from the National Health Survey. Methods: A descriptive study was carried out with National Health Survey laboratory data collected between 2014 and 2015. The hemoglobinopathies test was performed using the High Performance Liquid Chromatography method. The results of the individual tests were interpreted as providing normal, homozygous or heterozygous results for S, C and D hemoglobin, in addition to other possible hemoglobinopathies. Prevalence of hemoglobinopathies according to gender, skin color, region, age and schooling was estimated. Results: Hemoglobinopathies were present in 3.7% of the population. The main ones were the sickle cell trait (2.49%), thalassemia minor (0.30%) and suspected thalassemia major (0.80%). In relation to the sickle cell trait and suspected thalassemia major, there was a statistically significant difference for the skin color variable (p<0.05). The prevalences found for sickle cell trait according to skin color was: 4.1% among dark-skinned blacks, 3.6% among light-skinned blacks, 1.2% among whites, and 1.7% among others. Conclusion: The most prevalent hemoglobinopathies were the sickle cell trait and minor thalassemia, and were predominate among light- and dark-skinned black people. The study helps in identifying hemoglobinopathies and in genetic counseling in pre-conception.

Increased Prevalence of Type 2 Diabetes-Related Complications in Combined Type 2 Diabetes and Sickle Cell Trait.

OBJECTIVE: The prevalence of type 2 diabetes (T2D) is rapidly increasing in sub-Saharan Africa, where sickle cell trait (SCT) is also frequent. Although SCT is generally considered a benign condition, evidence suggests that SCT could exaggerate vascular dysfunction in T2D. However, it remains unclear whether SCT could increase the risk of the development of T2D complications. Therefore, this study was conducted to determine whether T2D complications were more prevalent among Senegalese individuals with SCT and T2D than among those with T2D only. RESEARCH DESIGN AND METHODS: Rates of hypertension, retinopathy, peripheral neuropathy, peripheral artery disease, and impaired renal function as well as arterial stiffness, blood rheology, and concentrations of plasma advanced glycation end products (AGEs) and cytokines were compared between groups of Senegalese individuals with combined SCT and T2D (T2D-SCT) (n = 60), T2D (n = 52), SCT (n = 53), and neither T2D nor SCT (control) (n = 56). Human aortic endothelial cell (HAEC) expression of inflammatory and adhesion factors was measured after treatment with tumor necrosis factor-α and subjects' plasma. Effects of AGE inhibition or tiron on HAEC expression of E-selectin were measured. RESULTS: Retinopathy, hypertension, and reduced renal function were more prevalent, and arterial stiffness, blood viscosity at high shear rates, and thixotropic index were higher, in the SCT group compared with the other groups. Multivariable analysis showed that plasma AGE concentration was significantly associated with arterial stiffness. E-selectin expression was elevated in HAECs treated with T2D-SCT plasma compared with the other groups, but AGE inhibition reversed this. CONCLUSIONS: SCT could potentially augment the risk of the development of T2D-related complications, including retinopathy, nephropathy, and hypertension.

Association of sickle cell haemoglobinopathies with dental and jaw bone abnormalities.

OBJECTIVE: To estimate the association between sickle cell anaemia and trait with dental and jaw bone abnormalities. SUBJECTS AND METHODS: Subjects (n = 369) were allocated to three groups: sickle cell anaemia, trait and control. Dental shape, number, size and position and changes in pulp chamber, root and periapex were analysed by intra-oral periapical radiographs. Integrity of lamina dura, quality of cancellous bone and bone trabeculation were also evaluated. Prevalence ratios (PR) were calculated (α = 0.05). RESULTS: Sickle cell anaemia had higher prevalence (PR:8.31) and number of teeth (PR:13.40) with external resorption; higher number of teeth with pulp calcification; partial and total loss of lamina dura; and higher prevalence of changes in trabecular structure of maxilla (PR:6.45) and mandible (PR:5.34). Sickle cell trait showed higher prevalence (PR:1.26) and higher number of teeth (PR:1.98) with partial loss of lamina dura; higher number of teeth with hypercementosis, changes in shape, size, periapex, total loss of lamina dura; and higher prevalence of changes in mandibular trabecular bone (PR:1.43). CONCLUSION: Pulp calcification and external resorption of the root were the most frequent dental alterations in sickle cell anaemia group, while in trait was higher frequency of changes in shape, size, periapex and root. Jaw bone changes were most prevalent in both homozygous and heterozygous subjects.

[Prevalence of hemoglobin variants in quilombola communities in the state of Piauí, Brazil]. / Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil.

Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui.

As hemoglobinas variantes (Hb) decorrem de mutações nos genes da globina. As variantes estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequência elevada na América, enquanto que no Brasil é maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presença de hemoglobinas variantes em 15 comunidades quilombolas do estado do Piauí. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia líquida de alta eficiência (HPLC). Aplicou-se questionário referente a gênero, etnia e consanguinidade das populações. Das 1.239 amostras, 5,4% apresentaram o traço falciforme AS, as doenças falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteração das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presença de 13 casamentos consanguíneos dentre as 84 alterações das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piauí contribui para sua educação em saúde frente aos aspectos da herança genética destas proteínas, relevante questão de saúde pública, proporcionando subsídios para a implantação do Programa Estadual da Doença Falciforme do Piauí.

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil / Prevalence of hemoglobin variants in quilombola communities in the state of Piauí, Brazil

Resumo As hemoglobinas variantes (Hb) decorrem de mutações nos genes da globina. As variantes estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequência elevada na América, enquanto que no Brasil é maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presença de hemoglobinas variantes em 15 comunidades quilombolas do estado do Piauí. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia líquida de alta eficiência (HPLC). Aplicou-se questionário referente a gênero, etnia e consanguinidade das populações. Das 1.239 amostras, 5,4% apresentaram o traço falciforme AS, as doenças falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteração das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presença de 13 casamentos consanguíneos dentre as 84 alterações das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piauí contribui para sua educação em saúde frente aos aspectos da herança genética destas proteínas, relevante questão de saúde pública, proporcionando subsídios para a implantação do Programa Estadual da Doença Falciforme do Piauí.

Abstract Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui.

Enfermedad de células falciformes en el embarazo / Sickle Cell Disease in Pregnancy

La anemia de células falciformes o drepanocitosis, es una de las hemoglobinopatías estructurales más comunes en el mundo. La clínica se resume en oclusión vascular e isquemia tisular, anemia hemolítica y la susceptibilidad a infecciones. La procreación en mujeres con hemoglobinopatías deviene un grave problema de salud, que exige una atención diferenciada y multidisciplinaria. Para esta afección no existe tratamiento especifico definitivo, el arsenal medico existente solo puede manejar los efectos y no la causa. La siguiente revisión tiene como objetivo ofrecer a los profesionales algunos aspectos relacionados con la fisiopatología, una discusión del problema clínico, diagnóstico y opciones terapéuticas de la enfermedad, lo que permite contribuir en la reducción de la morbilidad y mortalidad materna y perinatal. Se concluye que un alto índice de perspicacia y buen diagnóstico es menester para obtener resultados óptimos en las embarazadas afectadas por enfermedad de células falciformes(AU)

Sickle cell anemia or sickle cell disease is one of the most common structural hemoglobinopathies in the world. The clinic is summarized in vascular occlusion and tissue ischemia, hemolytic anemia and vulnerability to infections. Procreation in women with hemoglobinopathies becomes a serious health problem that requires a differentiated and multidisciplinary care. There is no definitive specific treatment for this condition, the existing medical resources can only address the effects and not the cause. The following review aims to offer professionals some aspects related to the pathophysiology, a discussion of the clinical problem, diagnosis and treatment options, which can contribute in reducing morbidity and maternal and perinatal mortality. It is concluded that high level of insight and good diagnosis are necessary for optimum results in pregnant women affected by sickle cell disease(AU)