A importância do aconselhamento genético na anemia falciforme

Guimarães, Cínthia Tavares Leal; Coelho, Gabriela Ortega

doi:10.1590/s1413-81232010000700085

Cited by 20 publications

(18 citation statements)

References 5 publications

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“…The importance of this type of intervention in preventing hemoglobinopathies is confirmed by Guimarães & Coelho (18) , who state that genetic counseling can guide individuals and families to make balanced decisions about procreation given the limitations ofgene therapy and the incurability of the disorder. Viana-Baracioliet al (9) also claim that proper guidance can minimize clinical, psychosocial and financial problems related to the disease.…”

Section: Discussionmentioning

confidence: 98%

“…In this approach, even when patients or family members are directly involved with the disorder, they do not need to make any immediate reproductive decision (18) . They are given educational and reproductive counseling by a multidisciplinary team of professionals suitably trained to transmit information relevant to the management of genetic diseases (19) .…”

Section: Introductionmentioning

confidence: 99%

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A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures

Ferreira¹,

Freire²,

Silveira-Lacerda³

et al. 2012

Revista Brasileira De Hematologia E Hemoterapia

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Background: The high frequency of hemoglobinopathies in Brazil constitutes a public health problem and thus educational and preventive measures are necessary to reduce the incidence. Genetic guidance, a modality of genetic counseling, and family screening are measures that can assist in reproductive decisions and mitigate clinical, psychological and social problems of families with these disorders.Objetive: The objective of the current study was to evaluate the effectiveness of educational and preventive measures for hemoglobinopathies using genetic guidance and laboratory screening of families.Methods: The diagnoses of patients with hemoglobinopathies were confirmed and then the level of knowledge about their disease was evaluated and genetic guidance was provided. Three months later, the level of assimilated information of these patients was evaluated. In addition, laboratory diagnosis of family members was carried out. Results: Diagnosis of sickle cell anemia was confirmed for most patients. Moreover, the majority of the patients who had a low level of knowledge before genetic guidance (68.8%) demonstrated a higher level of assimilated information after the process (81.8%). Almost 70% of the family members had hemoglobin changes and some had hemoglobinopathies(2.6%). They were duly informed about the results of the examinations, which made it possible to investigate further. Conclusion: Genetic guidance and family screening were effective preventive and educational measures that improved the quality of life of patients, preventing complications and sequels and allowed the referral of those who may transmit altered genes for clinical diagnosis and to genetic counseling services.

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Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures

Ferreira¹,

Freire²,

Silveira-Lacerda³

et al. 2012

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%

“…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) . In Brazil, where therapeutic abortion is prohibited, genetic counseling appears to seldom be provided to families with hemoglobinopathies and is mostly performed in the neonatal period for the purpose of diagnosis and family planning or at blood donation centers (13) .…”

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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“…Heterozygous individuals (Hb AS) have the sickle cell trait (SCT), that is, they are mutant allele carriers, which can be transmitted to their descendants 1 . For couples in whom both individuals have the SCT, identification of the condition and genetic counseling are important before starting a family 11 . Difficulty in distinguishing between the terms carrier and affected individuals was reported in two recent researches 12, 13.…”

Section: Introductionmentioning

confidence: 99%

Mortality by sickle cell disease in Brazil

Arduini

Rodrigues

Marqui

2017

Revista Brasileira de Hematologia e Hemoterapia

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This work aimed to characterize mortality by sickle cell disease in Brazil. The MEDLINE electronic database was searched using the terms ‘mortality’ and ‘sickle cell disease’ and ‘Brazil’ for articles published in the last five years aiming to provide a current analysis of the subject in question. Eight studies on mortality by sickle cell disease were carried out in the Brazilian states of Maranhão, Bahia, Minas Gerais, Rio de Janeiro and Mato Grosso do Sul. The majority of the deaths occurred in patients with sickle cell anemia, which is the most common genotype and causes the most severe clinical manifestation of the disease. In summary, there are few published studies on mortality related to sickle cell disease in Brazil, and most are from the state of Minas Gerais. This study emphasizes the importance of developing more studies on sickle cell disease mortality, so that it may be possible to profile gene carriers and give health professionals more data to strategize the delivery of more effective assistance to these individuals. Despite the early diagnosis of sickle cell disease by the Neonatal Screening Program and the use of preventive and therapeutic measures (penicillin, immunization and hydroxyurea), mortality by sickle cell disease on the world stage is still significant.

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A importância do aconselhamento genético na anemia falciforme

Abstract: A importância do aconselhamento genético na anemia falciformeThe importance of genetic counseling at sickle cell anemia

Cited by 20 publications

References 5 publications

A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures

A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures

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

Mortality by sickle cell disease in Brazil

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