sickle cell trait
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2022 ◽  
Vol 226 (1) ◽  
pp. S568
Author(s):  
Melissa Cantave ◽  
Rachel Paul ◽  
Anthony O. Odibo ◽  
Katherine Massa ◽  
Jeannie C. Kelly ◽  
...  

2022 ◽  
Vol 226 (1) ◽  
pp. S681-S682
Author(s):  
Melissa Cantave ◽  
Rachel Paul ◽  
Roxane M. Rampersad ◽  
Anthony O. Odibo ◽  
Jeannie C. Kelly ◽  
...  

2022 ◽  
Vol 75 (1) ◽  
Author(s):  
Rafael Rocha ◽  
Tania Vignuda de Souza ◽  
Rita de Cássia Melão de Morais ◽  
Luciana de Cássia Nunes Nascimento ◽  
Leila Leontina do Couto ◽  
...  

ABSTRACT Objective: to analyze the understanding of mothers about sickle cell disease and/or trait of the family from a diagnosed child. Methods: this is a qualitative study, using a semi-structured interview with 23 mothers, at a sickle cell disease outpatient clinic of a public institution, from October to December 2017. Analysis was thematic. Results: all participants had sickle cell trait as well as the parents of their children. Twenty children were diagnosed with sickle cell disease by Heel Prick Test, and three, after hospitalization due to the disease. Most did not know how to report the presence of the trait or disease in relatives other than nuclear. Final considerations: diagnosis cannot be restricted to the result of neonatal screening, requiring that preventive information on sickle cell crises be reinforced. It is recommended to search for other affected relatives to learn about their genetic condition, reflecting on their reproductive decisions.


Author(s):  
Timothy L. Waters ◽  
J. Heath Wilder ◽  
Bailey J. Ross ◽  
Zachary Salas ◽  
William F. Sherman

Author(s):  
S. R. Kohchale

Abstract: Sickle cell disease is caused by Mutations in the HBB gene. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. People with sickle cell anemia suffers with high morbidity and with many intercurrent infections, people of study district are with high economic burden, terminate fatality in childhood state and have the emotional and psychological trauma including the family members the exact magnitude of the problem in the study district is still obscure. The study conducted from April 2009 to April 2012 to know the prevalence of sickle cell anemia by month long survey and by visiting all PHC’S and RH of district and data collected to know the prevalence of sickle cell trait and sickle cell disease total 7763 cases were recorded in present study and age wise, gender wise and caste wise distribution recorded and the data was analyzed statistically. Keywords: Sickle, anemia, Gadchiroli, Haemoglobin, beta-globin


Author(s):  
Rachael Kermond ◽  
Elena Cavazzoni ◽  
Tatjana Kilo ◽  
Phillip N Britton ◽  
Anne Durkan

2021 ◽  
Vol 7 (4) ◽  
pp. 365-373
Author(s):  
LO Thanni ◽  
SA Gbadegesin

Background: Osteonecrosis of the femoral head is likely to be a complex of diseases rather than a single entity. In sub-Saharan Africa, epidemiological studies on the subject are uncommon. Objectives: To determine hip function, radiographic severity and other characteristics of patients with osteonecrosis of the femoral head (ONFH) at presentation in a sub-Saharan Africa population Methods: A combined prospective clinical survey and retrospective chart review of patients was done. Results: Fifty hips in 44 patients were studied (29 retrospectively and 15 prospectively). The prevalence of ONFH was 1.6%. The mean age was 24.8±13.2 years. The lesion was unilateral in 86.4% and bilateral in 13.6% of the hips. Sickle Cell Disease (SCD) occurred in 43.2%, sickle cell trait in 13.6%, and 20.5% of cases were idiopathic. Overall, 12% of affected hips were presented early, and all the hips were painful at presentation. Of the 18 hips studied prospectively, 72.2% had necrosis >30% and >30% subchondral collapse in 61.1%. The mean combined necrotic angle was moderate size, 197o±29.7o and 177.2o±69.4o for the right and left hips, respectively (p = 0.8). The mean WOMAC scores were 37.2 ±17.4 for function, 10.2±4.3 for pain and 4.2±2.7 for stiffness. Conclusion: Patients with osteonecrosis of the femoral head tended to be young adults and those with SCD. The majority present with large-sized osteonecrosis and subchondral collapse but moderate hip pain and stiffness.


Author(s):  
Charmi C. Thakkar ◽  
Inampudi Sailaja

Introduction: Sickle-cell disease (or drepanocytosis) is a life-long blood disorder Characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickle cell disease (SCD) has several complications, including chronic renal failure, manifesting with hypertension (high blood pressure) proteinuria (protein loss in the urine), hematuria (redblood cells in urine) and worsening anaemia. Progression to end-stage renal failure confers a poor prognosis. Objective: The objective of the study was to determine the Prevalence of Nephropathy among sickle cell disease patients. Materials and Methods: This cross sectional study includes a total 150 participants who suffering from sickle cell anemia and attending our Institute. Renal function test and Urine examination of all participants was done. Estimated Glomerular Filtration Rate (eGFR) calculated using the Cockroft Gault formula. Comparison of results was done between Sickle cell trait and Sickle cell disease Group. Results: The mean age of the SCA patients were 25.54±10 years. Maximum participants are found to be from age group 25-30 yr(n=35) followed by 20-25 yr(n=30). Of the 150 SCA patients, 89 (59.33%), and 61 (40.66%) were males and females, respectively. The Mean value of S.Creatinine of SCT group is 0.73±0.46 mg/dl and SCD is 1.0±0.35 mg/dl, while the Mean value of eGFR is 134.19±87.21 ml/min and 124.20 ±58.25 ml/min in SCT and SCD Group respectively. Conclusions: From our study we conclude that the Derangement of Kidney function in sickle cell disease is frequent in our setting especially among young adult. It concerns SCD as well as SCT patients. Albuminuria is more frequent in homozygote patients and its prevalence increase with age. Age ≥ 25 years is associated with high risk of CKD in SCA group and albuminuria in SCD.


Author(s):  
Kuldip Singh Sangha ◽  
Priyanka Patil ◽  
Sayed Fazalulla Khadri ◽  
Sushma Sonawane ◽  
Sheiba Ronald Gomes ◽  
...  

Introduction: A hereditary autosomal recessive condition goes by the name of sickle cell disease. Hemoglobin S polymerization in red blood cells under hypoxic circumstances results in vascular blockage, which is the pathophysiology of sickle cell disease. For the sake of maintaining group homogeneity, participants in the healthy group were either related to or friends of those with sickle cell disease, whereas those in the sickle cell trait group were related to those with sickle cell illness. Materials and Methods: A total of 150 participants were recruited for this research, 43 percent of them were female and 57 percent male. Patients in the control group were on average 30 years old, whereas those in the SCT group were 33 years old, and the average age of patients with SCD was 26. Those with sickle cell trait (SCT) and those with sickle cell disease (SCD) were divided into three categories. Patients were screened and diagnosed with chronic periodontitis using clinical criteria developed at the 1999 International World Workshop for Classification of Periodontal Diseases and Conditions. Results: The SCD, ST, and healthy groups did not vary significantly in terms of clinical indicators such as gastrointestinal (GI), peritoneal (PPD), and caloric (CAL). SCT group PI-1.550.45, GI 1.540.43, PPD-2.170.72 was greater than the mean and standard deviation of the SCD and control groups, but the chi square test revealed it to be non-significantly different. Conclusion: It is possible that patients with the Indian haplotype of SCD, albeit having milder symptoms of the illness, contributed to our conclusion that SCD, SCT patients had no significantly greater periodontal breakdown than healthy people. Although SCD's fundamental pathophysiology raises issues about our knowledge of periodontitis, additional study is needed.


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