Sickle cell anemia, early diagnosis and genetic counseling in sickle cell disease: a literature review
DOI:
https://doi.org/10.55892/jrg.v7i15.1181Keywords:
Genetic counseling, Sickle cell disease, Premature diagnosis, Clinical condition.Abstract
Sickle cell anemia (SCA) is one of the most common genetic and hereditary diseases worldwide, which affects the quality of life of patients, especially in the face of late diagnosis and/or lack of genetic counseling. This literature review reports on the consequences of SCA on patients' lives and the importance of early diagnosis and genetic counseling. To this end, an active search was carried out for scientific articles published in Portuguese and English, in the PubMed and Scielo databases, considering the period from 2020 to 2024, using specific keywords. Twenty-six scientific articles were retrieved from which important information was extracted, in line with the core of this research. The results indicated that most of the articles reported or described clinical cases, highlighting rare and/or common manifestations resulting from SCA, with pain crises being the most recurrent in these patients. Early diagnosis allows patients to improve their quality of life by minimizing symptoms, avoiding complications, and learning about the characteristics of sickle cell disease. Screening and genetic counseling programs generate positive results in terms of educating people about sickle cell disease and its characteristics, helping them to make reproductive decisions. However, the literature still shows that there is negligence when it comes to proper counseling of patients, resulting in a lack of information. Therefore, this review shows the clinical picture of SCA and reinforces the importance of early diagnosis and genetic counseling, since it is a genetic and hereditary disease.
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ABBOUD, Miguel. Standard management of sickle cell disease complications. Hematology/Oncology and Stem Cell Therapy, v. 13, n. 2, p. 85-90, 2020.
AKINGBOLA, Titilola Stella; AWORANTI, Oladapo Wale; OGUNDEJI, Sunday Peter. Audit of clinical and laboratory parameters of hemoglobin SS patients in a Nigerian teaching hospital. Annals of Medicine, v. 54, n. 1, p. 2920-2927, 2022.
AL ZEEDI, Manar Al Sanaa Ali; AL ABRI, Zahir Ghassan. Attitudes and impact among people with abnormal premarital screening test results in Muscat governorate’s primary healthcare centers in 2018. Journal of Community Genetics, v. 12, n. 1, p. 163-169, 2021.
ALCHALBAN, Mohamed F.; ALEKRI, Ahmed A.; ALKAABI, Shaikha M.; ALHILLY, Ali J.; ALOMRAN, Bedoor S. Unusual Distribution of cerebral venous thrombosis in a patient with sickle cell disease: a case study. Cureus, v. 15, n. 11, 2023.
ALDOSSARY, Dalal S. et al. Characteristics associated with the perceived likelihood to become parents among young adults with sickle cell disease or sickle cell trait in the USA. Journal of genetic counseling, v. 31, n. 3, p. 689-697, 2022.
AL-RAMADHAN, Maryan; ALJANOBI, Amena. The great mimicker: pulmonary embolism presenting as flank pain in a sickle cell disease patient. Cureus, v. 15, n. 6, 2023.
BLAKE, Alphanso et al. Stigma and illness uncertainty: adding to the burden of sickle cell disease. Hematology, v. 23, n. 2, p. 122-130, 2018.
BOJJA, Srikaran; JAVED, Nismat; ALLENA, Nishant; BOKKA, Shreya; KHAJA, Misbahuddin. Rare cause of acute loss of vision in a patient with sickle cell trait. Cureus, v. 15, n. 7, 2023.
BOTELHO, Renata; GUERRA, Ricardo Luís Fernandes; D’ALMEIDA, Vânia; MEDEIROS, Alessandra. Program of combined physical exercise reduces the perception of pain in a patient with sickle cell anemia. Case report. Revista Dor, v. 18, p. 270-274, 2017.
BRASIL. Agência Nacional de Vigilância Sanitária. Doença falciforme. Manual do Agente de Saúde, 2001. Disponível em: https://bvsms.saude.gov.br/bvs/publicacoes/anvisa/agente.pdf. Acesso em: 04 fev. 2024.
BRASIL. Ministério da Saúde. Doença falciforme, 2024. Disponível em: https://www.gov.br/saude/pt-br/assuntos/saude-de-a-a-z/d/doenca-falciforme. Acesso em: 20 jan. 2024.
BRASIL. Ministério da Saúde. Secretaria de Atenção à Saúde. Departamento de Atenção Hospitalar e de Urgência. Doença falciforme: diretrizes básicas da linha de cuidado. Brasília: Ministério da Saúde, 2015.
BUDHATHOKI, Nibash; TIMILSINA, Sunita; RAM, Bebu; MARKS, Douglas. Bone marrow necrosis and fat embolism syndrome: a near fatal complication in previously undiagnosed sickle beta+ thalassaemia. BMJ Case Reports CP, v. 14, n. 1, p. e238317, 2021.
BUSSE, Birgit; TEPEDINO, Maria-Fatima; RUPPRECH, Wolfgang; KLEIN, Hanns-Georg. Stepwise diagnostics of hemoglobinopathies. Laboratoriums Medizin, v. 39, n. s1, p. 000010151520160009, 2016.
CANÇADO, Rodolfo; JESUS, Joice. A doença falciforme no Brasil. Revista Brasileira de Hematologia e hemoterapia, v. 29, p. 204-206, 2007.
CAPRINI, Fernanda Rosalem; MOTTA, Alessandra Brunoro. The psychological impact on family caregivers of children and adolescents with sickle cell anemia. Estudos de Psicologia (Campinas), v. 38, p. e190168, 2020.
CARVALHO, Evanilda Souza de Santana; CARNEIRO, Jayanne Moreira; GOMES, Aline Silva Gomes; FREITAS, Katia Santana; JENERETTEL, Coretta Melissa. Por que sua dor nunca melhora? Estigma e enfrentamento de pessoas com doença falciforme. Revista Brasileira de Enfermagem, v. 74, 2021.
CORDEIRO, Rosa Cândida; FERREIRA, Sílvia Lúcia; SANTOS, Ane Caroline da Cruz. Experiências do adoecimento de pessoas com anemia falciforme e estratégias de autocuidado. Acta Paulista de Enfermagem, v. 27, p. 499-504, 2014.
CORDEIRO, Rosa Cândida; FERREIRA, Sílvia Lúcia; SANTOS, Ane Caroline da Cruz.The illness of women and men with sickle cell disease: a Grounded Theory study. Revista Latino-Americana de Enfermagem, v. 23, p. 1113-1120, 2015.
COSTA JÚNIOR, Homero Barros da. Proposta de guidelines para o uso de literatura cinzenta em revisões sistemáticas de literatura: como evitar o problema da disponibilidade. 2023. 78 f. Trabalho de Conclusão de Curso (Graduação em Ciência da Computação), Programa de Graduação em Ciência da Computação, Universidade Federal de Pernambuco, Recife, 2023.
ELNOUR, Salma; HASHIM, Maram; IBRAHIM, Halah. Disseminated non typhoidal salmonella infection with salmonella pneumonia and vertebral osteomyelitis in sickle cell disease: A case report. IDCases, v. 27, p. e01390, 2022.
FELIX, Andreza Aparecida; SOUZA, Helio M.; RIBEIRO, Sonia Beatriz F. Aspectos epidemiológicos e sociais da doença falciforme. Revista Brasileira de Hematologia e Hemoterapia, v. 32, p. 203-208, 2010.
GALIZA NETO, Gentil Claudino de; PITOMBEIRA, Maria da Silva. Aspectos moleculares da anemia falciforme. Jornal Brasileiro de Patologia e Medicina Laboratorial, v. 39, p. 51-56, 2003.
GUARDA, Caroline Conceição et al. Sickle cell disease: a distinction of two most frequent genotypes (HbSS and HbSC). PLoS One, v. 15, n. 1, p. e0228399, 2020.
GUIMARÃES, Cínthia Tavares Leal; COELHO, Gabriela Ortega. A importância do aconselhamento genético na anemia falciforme. Ciência & Saúde Coletiva, v. 15, p. 1733-1740, 2010.
HOZ, Julia Alonso et al. Parvovirus b19 infection in children with sickle cell disease, watch out for splenomegaly! A case report. African Health Sciences, v. 22, n. 1, p. 598-601, 2022.
ILESANMI, Oluwatoyin Olatundun. Pathological basis of symptoms and crises in sickle cell disorder: implications for counseling and psychotherapy. Hematology Reports, v. 2, n. 1, p. e2, 2010.
IVO, Maria Lúcia; CARVALHO, Emília Campos de. Assistência de enfermagem a portadores de anemia falciforme, à luz do referencial de Roy. Revista Latino-Americana de Enfermagem, v. 11, p. 192-198, 2003.
KAMAL, Sanaa et al. Influence of nutrition on disease severity and health-related quality of life in adults with sickle cell disease: a prospective study. Mediterranean journal of hematology and infectious diseases, v. 13, n. 1, 2021.
KANTER, Julie; JORDAN, Lanetta B. Improving the healthcare model for management of adults with sickle cell disease in the PPACA era. J Hematol Transfus, v. 3, n. 1, p. 1037, 2015.
KARIMI, Minoodokht Bavarsa. Neglected pulmonary arterial hypertension in sickle cell anaemia during prenatal care. European Journal of Case Reports in Internal Medicine, v. 7, n. 6, 2020.
KHAN, Arshan; NASHED, Bola; ISSA, Mohamed Issa; KHAN, Muhammad Zatmar. Sickle cell intrahepatic cholestasis: extremely rare but fatal complication of sickle cell disease. Cureus, v. 14, n. 2, 2022.
MELO-REIS, Paulo R. et al. A importância do diagnóstico precoce na prevenção das anemias hereditárias. Revista Brasileira de Hematologia e Hemoterapia, v. 28, p. 149-152, 2006.
MENKA, Kumari et al. Analyzing effects of sickle cell disease on morphometric and cranial growth in indian population. Journal of Pharmacy and Bioallied Sciences, v. 13, n. Suppl 2, p. S1402-S1405, 2021.
MOTA, Felipe Machado et al. Análise da tendência temporal da mortalidade por anemia falciforme no Brasil. Revista Brasileira de Enfermagem, v. 75, p. e20210640, 2022.
NATHANI, Harsh R.; SAMAL, Subrat. Septic arthritis associated with hip joint subluxation and epiphyseal plate deformation as a sequala of sickle cell anemia. Cureus, v. 15, n. 11, 2023.
NOGUEIRA DE SÁ, A Ana Carolina Micheletti Gomide et al. Diferenças entre intervalos de referência de hemograma de adultos brasileiros com e sem traço falciforme segundo os exames laboratoriais da Pesquisa Nacional de Saúde. Revista Brasileira de Epidemiologia, v. 26, p. e230003, 2023.
OLA, Bolanle A.; YATES, Scott J.; DYSON, Simon M. Living with sickle cell disease and depression in Lagos, Nigeria: A mixed methods study. Social Science & Medicine, v. 161, p. 27-36, 2016.
PARIKH, Pooja et al. Parafoveal acute middle maculopathy (PAMM) in sickle cell disease after discontinuation of hydroxyurea. American Journal of Ophthalmology Case Reports, v. 28, p. 101753, 2022.
PECKER, Lydia H.; NAIK, Rakhi P. The current state of sickle cell trait: implications for reproductive and genetic counseling. Hematology 2014, the American Society of Hematology Education Program Book, v. 2018, n. 1, p. 474-481, 2018.
PEREIRA, Mauricio Gomes; GALVÃO, Taís Freire. Etapas de busca e seleção de artigos em revisões sistemáticas da literatura. Epidemiologia e Serviços de Saúde, v. 23, p. 369-371, 2014.
POMPEO, Carolina Mariano et al. Clinical-epidemiological characteristics and mortality in patients with sickle cell anemia: a retrospective cohort study of 1980 at 2018. International Journal of General Medicine, p. 1057-1074, 2022.
RANI, Sabitha et al. A study of spectrum of sickle cell anemia and thalassemia in a teaching institute of South India. Nigerian Journal of Clinical Practice, v. 25, n. 4, p. 490-495, 2022.
ROBSON, Mark E. et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol, v. 28, n. 5, p. 893-901, 2010.
SÁNCHEZ-VILLALOBOS, Maria et al. A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain). International Journal of Neonatal Screening, v. 9, n. 4, p. 55, 2023.
SEVERSEIKE, Benjamin et al. Diagnostic challenges of renal medullary carcinoma and the role for cytologic assessment: Case report and literature review. Journal of Clinical Laboratory Analysis, v. 37, n. 4, p. e24854, 2023.
SHETTY, Raghavendra et al. Minor physical anomalies including palatal rugae pattern and palatal dimensions in children with sickle cell disease: A cross-sectional analytical study. Heliyon, v. 10, n. 2, 2024.
SOLIMAN, Ashraf et al. Blood transfusion and iron overload in patients with Sickle Cell Disease (SCD): Personal experience and a short update of diabetes mellitus occurrence. Acta Bio Medica: Atenei Parmensis, v. 93, n. 4, 2022.
SOUSA, Grazielli Gigiane Oliveira et al. Crise álgica em crianças portadoras de doença falciforme. Revista Médica de Minas Gerais, p. S23-S27, 2015.
THAKER, Pallavi et al. Newborn screening for sickle cell disease among tribal populations in the states of Gujarat and Madhya Pradesh in India: evaluation and outcome over 6 years. Frontiers in Medicine, v. 8, p. 731884, 2022.
VARGAS-HERNÁNDEZ, Diego et al. Sickle cell trait, clinical manifestations and outcomes: a cross-sectional study in colombia: increasing rate of symptomatic subjects living in high altitude. Mediterranean Journal of Hematology and Infectious Diseases, v. 15, n. 1, 2023.
VOBUGARI, Nikitha et al. Sideroblastic anemia in a patient with sickle cell disease. BMJ Case Reports CP, v. 15, n. 2, p. e246623, 2022.
WEIS, Margani Cadore; BARBOSA, Mariana Roberta; BELLATO, Roseney; FILOMENA, Laura S. de Araújo; SILVA, Alessandra Hoelscher. A experiência de uma família que vivencia a condição crônica por anemia falciforme em dois adolescentes. Saúde em Debate, v. 37, p. 597-609, 2013.
ZAGO, Marco Antonio; PINTO, Ana Cristina Silva. Fisiopatologia das doenças falciformes: da mutação genética à insuficiência de múltiplos órgãos. Revista Brasileira de Hematologia e Hemoterapia, v. 29, p. 207-214, 2007.
ZIYADAH, Mohammed S. et al. Predisposing Factors and Incidence of Venous Thromboembolism among Hospitalized Patients with Sickle Cell Disease. Journal of Clinical Medicine, v. 12, n. 20, p. 6498, 2023.
