Aconselhamento genético do paciente com doença falciforme

Ramalho, Antonio Sérgio; Magna, Luís Alberto

doi:10.1590/s1516-84842007000300008

Cited by 14 publications

(21 citation statements)

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“…Sexuality is an essential characteristic of the human being, present in all stages of life ( 7) despite its assertion during adolescence. In the broad setting where sexuality intersects with SCA, there are other factors to consider such as the clinical emergency of priapism ( 8) , the risk of pregnancy in women with SCA ( 9) and genetic counseling ( 10) .…”

Section: Introductionmentioning

confidence: 99%

Sexuality and sickle cell anemia

Côbo¹,

Chapadeiro²,

Ribeiro³

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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Background Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S) which, when homozygous (Hb SS) is the cause of sickle cell anemia. Changes of puberty, correlated with a delayed growth spurt, begin late in both male and female sickle cell anemia individuals with repercussions on sexuality and reproduction. The objectives of this exploratory and descriptive study were to characterize the development of sexuality in adults with sickle cell anemia by investigating the patient's perception of their sex life, as well as the information they had and needed on this subject. Methods Twenty male and female sickle cell anemia patients treated at the Hemocentro Regional de Uberaba (UFTM) with ages between 19 and 47 years old were enrolled. A socioeconomic questionnaire and a semi-structured interview on sexuality, reproduction and genetic counseling were applied. Results This study shows that the sickle cell anemia patients lacked information on sexuality especially about the risks of pregnancy and the possible inheritance of the disease by their children. Moreover, the sexual life of the patients was impaired due to pain as well as discrimination and negative feelings experienced in close relationships. Conclusion The health care of sickle cell anemia patients should take into account not only the clinical aspects of the disease, but also psychosocial aspects by providing counseling on sexuality, reproduction and genetics, in order to give this population the possibility of a better quality of life.

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Section: Introductionmentioning

confidence: 99%

Sexuality and sickle cell anemia

Côbo¹,

Chapadeiro²,

Ribeiro³

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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“…Among such actions, the following stand out: pop- FerreiraTD, Silveira-Lacerda EP, García-Zapata MTA ulation and family screening, multidisciplinary and multiprofessional follow up and access to services specialized in genetic counseling (10,(12)(13)29) .…”

Section: Discussionmentioning

confidence: 99%

“…Genetic counseling plays a crucial role in the promotion of public health and human rights (10) . In the countries in which abortion is allowed in cases of fetal abnormalities, to preserve the mother's health or for socioeconomic reasons (11) , genetic counseling might encourage the termination of high-risk pregnancies as an approach to reduce the incidence of hemoglobinopathy (12) .…”

Section: Introductionmentioning

confidence: 99%

Genetic counseling for individuals with hemoglobin disorders and for their relatives: a systematic literature review

Ferreira

Silveira-Lacerda

García-Zapata

2014

Rev. esc. enferm. USP

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Objective: To identify genetic counseling programs that do not encourage therapeutic abortion for individuals with hemoglobin disorders and/or for their relatives. Method: Systematic literature review of articles published from 2001 to 2012 that are located in the PubMed, LILACS, SciELO and SCOPUS databases using keywords in Portuguese, English and Spanish and that met the inclusion and exclusion criteria described on a standardized form. Results: A total of 409 articles were located, but only eight (1.9%) were selected for analysis. Conclusion: Although seldom mentioned in the literature, educational/preventive programs targeting hemoglobinopathies are feasible and allow the affected individuals to acquire knowledge on the consequences of this condition and their odds of transmitting it.

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“…Essa medida corrigiu antigas distorções e provocou importantes discussões, como a igualdade, o rigor ético e científico na acessibilidade universal aos testes de triagem aos recém-nascidos brasileiros, independentemente de classe social, etnia, condições socioeconômica ou localização geográfica 14 . O Programa Nacional de Triagem Neonatal vem sendo implantado nos Estados brasileiros.…”

Section: Triagem Neonatalunclassified

“…Meireles 18 destaca a importância da vigilância no desenvolvimento desses programas e afirma que desenvolver programas de triagem neonatal ineficazes seria uma medida pior do que não tê-los, visto que haveria grande consumo de recursos públicos, promoveria uma falsa sensação de segurança social e não minimizariam as conseqüências das doenças rastreadas 18 . As hemoglobinopatias são tratáveis, porém clinicamente incuráveis 14 . A natureza incurável da doença falciforme reforça a necessidade de investimento na qualidade de vida dessas pessoas 19 .…”

Section: Triagem Neonatalunclassified

Doença Falciforme E Triagem Neonatal: Um Debate Necessário

Souza

Araújo

2016

Rev. Saúde Col. UEFS

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A elevada prevalência da doença falciforme representa considerável problema de saúde pública. Inúmeras são as manifestações clínicas e fatores associados. A triagem neonatal desenvolvida pelo Programa Nacional de Triagem Neonatal possibilita, além do rastreamento, acessibilidade e assistência em saúde, acompanhamento multiprofissional, aconselhamento genético e tratamento na perspectiva de atender aos princípios preconizados pelo Sistema Único de Saúde. Contudo, constata-se a necessidade de maior visibilidade social, planejamento e efetivação de políticas públicas voltadas para essa população. Este ensaio objetiva discutir os aspectos clínicos e epidemiológicos relacionados à doença falciforme, assim como a fundamentação da triagem neonatal nesse cenário.

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Aconselhamento genético do paciente com doença falciforme

Cited by 14 publications

References 0 publications

Sexuality and sickle cell anemia

Sexuality and sickle cell anemia

Genetic counseling for individuals with hemoglobin disorders and for their relatives: a systematic literature review

Doença Falciforme E Triagem Neonatal: Um Debate Necessário

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