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

Abstract

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.

Evaluation of Married Haemoglobinopathic Carrier Couples for Prevention of Haemoglobinopathic Births

“…Kılınç emphasised the usefulness of premarital screening programs in the evaluation of haemoglobinopathies in Turkey (7). The need for similar programs was also reported by Ferreira et al (3) in the case of Brazil. The effect of these legal obligations was observed in our study with a dramatic increase of pre-marital testing from 5.1% among couples married before 1994 to 95.0% among those married after 1994.…”

“…Abnormal haemoglobins (Hb) and thalassaemias are some of the most frequently observed hereditary disorders in the world, but especially in the Mediterranean region where Turkey is also located, with clinical profiles that range from asymptomatic to lethal (1)(2)(3). The World Health Organisation (WHO) reports that the frequency of thalassaemias and abnormal Hb carriers is 5.1% with nearly 226 million carriers worldwide (4)(5)(6).…”

Prevalence of Hb S (HHB: c.20A > T) in a Honduran Population of African Descent

“…Within the population of African descent, this prevalence increases to 13.25% (20). The largest number of publications concerning the prevalence of this genetic condition in Latin America comes from Brazil (21,22). For this country, Lervolino et al (23) reported a national prevalence of 9.8% for the carrier genotype; they also reported that there were between 0.8 to 60 cases of newborns with sickle cell disease for every 100,000 live births/year heterogeneously distributed in this population.…”

O processo e a prática do aconselhamento genético no Brasil: uma revisão de escopo

“…Por outro lado, a região Norte, considerada a mais carente do país, necessita de maior investimento em saúde pública e em pesquisa, o que se explicita nos estudos escassos oriundos dessa região, um possível indicador de desigualdade (BARBIANI et al, 2016). Em relação às patologias que são abordadas durante o processo de AG, um grande número (n=9) de trabalhos estava focado nas hemoglobinopatias (BARACIOLI et al, 2018;MENESES et al, 2015;SILVA et al, 2015;ACOSTA et al, 2013;FERREIRA et al, 2012;GUIMARÃES et al, 2010;RAMALHO et al, 2007;RAMALHO et al ,2007;DINIZ et al, 2005) e no câncer hereditário (n=6) (PALMERO et al, 2016;ASHTON PROLLA et al, 2015;VIEIRA et al, 2014;SILVA et al, 2013;CUSTÓDIO et al, 2013;PALMERO et al, 2007).…”

“…A necessidade do oferecimento de programas gratuitos de triagem laboratorial, diagnóstico precoce, orientação médica, social e psicológica, com medidas educativas e preventivas para os usuários que convivem com hemoglobinopatias, provavelmente, está relacionada com a formação da população brasileira, que originou-se a partir de uma panmixia étnica, a qual foi composta por povos africanos escravizados (SILVA-FILHO et al, 2011). Essa composição afrodescendente aumentou a prevalência de distúrbios genéticos da hemoglobina (FERREIRA et al, 2012;MOREIRA, 2017) reprodutiva livre e informada. Essa conclusão foi muito bem colocada por Ramalho et al (2007), destacando que o AG tem como objetivo ser primordialmente assistencial e educativo, ou seja, permitir a usuários ou famílias a tomada de decisões reprodutivas consistentes e psicologicamente equilibradas.…”