Mortality in children, adolescents and adults with sickle cell anemia in Rio de Janeiro, Brazil.

OBJECTIVE: To determine the mortality rate of children, adolescents and adults with sickle cell anemia in Rio de Janeiro, Brazil. METHODS: The number of deaths, the mortality rate and the causes of deaths in patients with sickle cell anemia who were treated and followed up at our institution for 15 years were determined and compared to data available for the Brazilian population. RESULTS: The overall number of deaths was 281 patients with a mortality rate of 16.77%. Survival probability was significantly higher in females. The number of deaths and the mortality rate were age-specific with a significant increase in the 19- to 29-year-old age group. The remaining life expectancy of the patients with sickle cell anemia was less than that of Brazilians at large. The gap between the two was about 20 years for ages between one and five years with this gap decreasing to ten years after the age of 65 years. The most common causes of death were infection, acute chest syndrome, overt stroke, organ damage and sudden death during painful crises. CONCLUSION: To the best of our knowledge, this is the first Brazilian study in a single institution in Rio de Janeiro; the mortality rate was 18.87% among adult patients with sickle cell anemia. The mortality rates in children and adults are higher than those reported in developed countries of the northern hemisphere

Sickle Cell Anemia & Associated Neurological Complications: A Literature Review

Sickle cell anemia, an inherited disorder, causes red blood cells to contort into a disk or sickled shape becoming hard and sticky and obstructing blood flow. As the most common hemoglobinopathy, over 100,000 Americans in the US are affected by sickle cell disease. Sickle cell anemia is an inheritance of the abnormal sickle cell gene genetically transferred from both parents. Sickle cell anemia can be easily diagnosed in DNA through a blood test or genetic screening. With a 1 in 4 chance of inheriting copies of the sickle cell gene from both parents if both biological parents are carriers, the cause of sickle cell anemia is due to a single amino acid mutation due to a nucleotide polymorphism or variation typically due to a protein substitution. Individuals with sickle cell anemia may experience signs and symptoms while they are only a few months old. Common signs or symptoms related to this disease are severe headaches, unexplained numbness, confusion, or dizziness. The pathophysiology of sickle cell anemia or SCA relies on the genetics of endometrial dysfunction, HbS polymerization, sterile inflammation and vaso-occlusion. For inpatient hospital visits, sickle cell disease diagnosis was recorded in about 1.7% of whites, 3.9% of Hispanics and 87.5% of blacks (Fingar et al., 2019). Sickle cell anemia life expectancy is two decades shorter in adults compared to children and young adults. Several complications may arise with those infected by SCA, such areas include gallstones, kidney disease, splenic sequestration and may even cause blindness. There are a few management strategies from vitamin intake to bone marrow or stem cell transplant to subdue pain and complications of sickle cell anemia. Sickle cell anemia is a costly, long term health condition that commonly affects minorities. The low income community makes up approximately 92.5% of inpatient hospital visits for patients diagnosed with SCA. Because sickle cell anemia is a lifelong disease, complications that affect the nervous system of those with SCA may progress with age further exacerbating any symptoms associated with this disease. Sickle cell anemia has been known to lead to a decrease in cognitive attainment, strokes, and even neurological issues such as neuropathy that can result in paralysis. These reported neuropathies occurring in patients with sickle cell disease; are specific neuropathies like peripheral neuropathy, mental & mandibular nerve neuropathy and mononeuropathy multiple. Studies on cognitive activity provide evidence that individuals with SCA experience cognitive deficits in the absence of any injury to the central nervous system. IQ levels of patients with SCA were reported to be between 4-7 scaled points lower than that of those without the disease. Complications of sickle cell anemia can be fatal

Surgery in sickle cell anemia

Sickle cell anemia is a hemoglobin disorder with a wide range of clinical manifestations and complications. Medical treatment is the mainstay of management but surgery is indicated in some cases. The authors review the main surgical indications in sickle cell anemia as frequently encountered and review treatment guidelines. Keywords: sickle cell anemia, surgery, indications Clinics in Mother and Child Health Vol. 1(1) 2004: 65-6

Interview with Albertha Cook

In her August 1984 interview with Michael Cooke, Albertha Cook discussed her time at the Committee on Better Racial Assurance (COBRA) and the organization’s association with DHEC. Cook covered the issues with the health system and physicians not understand what sickle cell anemia was and how to diagnose it, the lack of education in Black communities on genetic disorders, and the Black community’s aversion to admitting illness. She also discussed the issues with testing for sickle cell anemia, COBRA’s sickle cell anemia program’s goals, and DHEC’s involvement with sickle cell anemia education, prevention, and treatment. This interview was conducted for inclusion into the Louise Pettus Archives and Special Collections Oral History Program.https://digitalcommons.winthrop.edu/oralhistoryprogram/1289/thumbnail.jp

Pneumococcal vaccination coverage among children with sickle cell anemia, sickle cell trait, and normal hemoglobin

BackgroundChildren with sickle cell anemia and sickle cell trait are at an increased risk of invasive pneumococcal disease compared to children with normal hemoglobin. We assessed and compared pneumococcal vaccination status among these three groups.ProcedureChildren with sickle cell anemia and sickle cell trait were identified using Michigan newborn screening records (1997–2014); each child was matched to four children with normal hemoglobin based on age, Medicaid enrollment (at least 1 year from 2012–2014), race, and census tract. Vaccination records were obtained from the state’s immunization system. Pneumococcal vaccine coverage (PCV7 or PCV13 depending on date of administration) was assessed at milestone ages of 3, 5, 7, and 16 months. The proportion of children with vaccine coverage at each milestone was calculated overall and compared among children with sickle cell anemia, sickle cell trait, and normal hemoglobin using chi‐square tests.ResultsThe study population consisted of 355 children with sickle cell anemia, 17,319 with sickle cell trait, and 70,757 with normal hemoglobin. The proportion of children with age‐appropriate pneumococcal vaccination coverage was low at each milestone and generally decreased over time. Children with sickle cell anemia were more likely to be covered compared to children with sickle cell trait or normal hemoglobin.ConclusionsDespite higher pneumococcal vaccination coverage among children with sickle cell anemia, opportunities for improvement exist among all children. Targeted interventions will benefit from mechanisms to identify children with increased risks such as sickle cell anemia or trait to improve pneumococcal vaccination coverage among these groups.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/145560/1/pbc27282.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/145560/2/pbc27282_am.pd

Executive performance on the preschool executive task assessment in children with sickle cell anemia and matched controls

Executive deficits are commonly reported in children with sickle cell anemia. Earlier identification of executive deficits would give more scope for intervention, but this cognitive domain has not been routinely investigated due to a lack of age-appropriate tasks normed for preschool children. In particular, information relating to patient performance on an executive task that reflects an everyday activity in the classroom could provide important insight and practical recommendations for the classroom teacher at this key developmental juncture as they enter the academic domain. The performance of 22 children with sickle cell anemia was compared to 24 matched control children on the Preschool Executive Task Assessment. Findings reveal that children with sickle cell anemia are performing poorer than their matched peers on this multi-step assessment. In particular, children with sickle cell anemia required more structured support to shift focus after a completed step, as reflected by poorer scores in the quantitative Sequencing and Completion domains. They also required more support to stay on task, as seen by poorer ratings in the qualitative Distractibility domain. ABBREVIATIONS: PETA: Preschool Executive Task Assessment; SCA: Sickle Cell Anemia; EF: Executive Functioning

Preventing sickle cell anemia complications in children screening and treatment for life-threatening problems are far too low

Sickle cell anemia is the most severe form of sickle cell disease, a group of inherited red blood cell disorders causing unusually shaped, hard, and sticky red blood cells. These cells clump together, blocking blood flow carrying oxygen through the body. Sickle cell anemia, which primarily affects Black or African American people, is associated with a shorter life span and life-threatening complications that can affect all parts of the body. These complications cause pain and suffering. Sickle cell anemia is a common cause of childhood stroke.There are screenings and treatments available to ease children\u2019s suffering from sickle cell anemia. Two recommended healthcare measures to prevent complications in children with sickle cell anemia are:\u2022 Transcranial doppler (TCD) ultrasound screening, which identifies children with increased risk for stroke.\u2022 Hydroxyurea therapy, which reduces the occurrence of several complications, including severe acute pain episodes and acute chest syndrome, which can result in lung injury and trouble breathing.Far too few patients are receiving these potentially lifesaving prevention measures, recommended by an expert panel in 2014. Fewer than half of children aged 2\u20139 years (47%) and 10\u201316 years (38%) received a TCD ultrasound screening in 2019. Similarly, less than half of children aged 2\u20139 years (38%) and slightly over half of children 10\u201316 years (53%) used hydroxyurea. Managing sickle cell anemia in children is complex. These children face discrimination and multiple barriers to care. Racism and prejudice contribute to and worsen these barriers to care, making it harder to receive quality care. This leads to immense physical, emotional, and mental distress for children and their families.Everyone can help improve care for people with sickle cell anemia by taking steps to address racism and prejudice. The healthcare system can promote tailored strategies to reduce barriers and increase TCD screening and hydroxyurea use among children with sickle cell anemia.20221192

Left ventricular function and cardiac valvar annular dimensions among children with sickle cell anemia compared to those with hemoglobin AA type in Enugu, Nigeria

BackgroundEnumerating the relationship between cardiac structures, function and chamber sizes in children with sickle cell anemia would help in delineating some cardiovascular abnormalities which will aid the Pediatric cardiologist and the cardiac surgeons in a number of decision-making situations.ObjectivesThe objectives of this study are to assess the dimension of cardiac structures and left ventricular function in children with sickle cell anemia in steady state and controls using echocardiography.MethodsA cross-sectional prospective study that assessed cardiac structures and left ventricular function among fifty-one children with sickle cell anemia (HBSS) and compared with fifty children with HB AA type serving as controls.ResultsA significant high proportion of children with sickle cell anemia had abnormal Valvar dimension and left ventricular function above two standard deviations (2-SD) from the mean of the standard population compared to the control group, showing a statistically significant difference (χ2 = 10.42, p= 0.001). All the mean annular valves diameter, left ventricular internal dimension in systole and diastole, inter-sinus distance diameter and sinu-tubular junction diameter are higher in children with sickle cell anemia than controls and this is statistically significant. (p<0.005). ConclusionThis result shows that children with sickle cell anemia have increased valvar size diameter compared with those with normal hemoglobin type. A significantly higher proportion of respondents in type SS group had abnormal left ventricular systolic and diastolic dysfunction when compared with those in type AA grou

Adrenal Myelolipoma, Cholelithiasis and Calcified Spleen: Retrospective Diagnosis of Sickle Cell Anemia Using a Novel Triad of Abdominal Imaging Findings

Sickle cell anemia is an inherited abnormality of the globin chain with very high prevalence in the Indian subcontinent. A significant proportion of these patients present late in life and are at a risk of complications like acute chest syndrome and painful episodes till a definitive diagnosis is reached and appropriate treatment is started . We report a novel triad of abdominal imaging findings which is not reported in literature until now and which may suggest a diagnosis of sickle cell anemia in retrospect. Patients with this triad of abdominal findings should be suspected to have an underlying hemoglobinopathy and should be referred for further hematological workup. Although in our case the patient was diagnosed to have sickle cell anemia depending on the abnormal morphology of red cells and hemoglobin electrophoresis, it should be remembered that this triad of findings may be seen in other hemoglobinopathies which induce a state of chronic anemia. Key words: sickle cell anemia, adrenal myelolipoma, gall stones, calcified spleen

A Genome-Wide Association Study of Total Bilirubin and Cholelithiasis Risk in Sickle Cell Anemia

Serum bilirubin levels have been associated with polymorphisms in the UGT1A1 promoter in normal populations and in patients with hemolytic anemias, including sickle cell anemia. When hemolysis occurs circulating heme increases, leading to elevated bilirubin levels and an increased incidence of cholelithiasis. We performed the first genome-wide association study (GWAS) of bilirubin levels and cholelithiasis risk in a discovery cohort of 1,117 sickle cell anemia patients. We found 15 single nucleotide polymorphisms (SNPs) associated with total bilirubin levels at the genome-wide significance level (p value <5×10−8). SNPs in UGT1A1, UGT1A3, UGT1A6, UGT1A8 and UGT1A10, different isoforms within the UGT1A locus, were identified (most significant rs887829, p = 9.08×10−25). All of these associations were validated in 4 independent sets of sickle cell anemia patients. We tested the association of the 15 SNPs with cholelithiasis in the discovery cohort and found a significant association (most significant p value 1.15×10−4). These results confirm that the UGT1A region is the major regulator of bilirubin metabolism in African Americans with sickle cell anemia, similar to what is observed in other ethnicities