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Original Article
339
Rev Bras Hematol Hemoter. 2012;34(5):339-44
A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of
family members as educational and preventive measures
Tatiana Dela-Sávia Ferreira
Adriana Sousa Freire
Elisângela de Paula Silveira-Lacerda
Marco Túlio Antônio García-Zapata
Universidade Federal de Goiás - UFG,
Goiania, GO, Brazil
Conflict-of-interest disclosure:
The authors declare no competing financial
interest
Submitted: 12/14/2011
Accepted: 6/29/2012
Corresponding author:
Tatiana Dela-Sávia Ferreira
Universidade Federal de Goiás - UFG
Instituto de Patologia Tropical e Saúde Pública
Núcleo de Pesquisas em Agentes Emergentes
e Re-emergentes
Caixa Postal 12911 - Setor Leste Vila Nova
74643-970 Goiânia, GO, Brazil
Phone: 55 62 3521-1839
nupereme@gmail.com
www.rbhh.org or www.scielo.br/rbhh
DOI: 10.5581/1516-8484.20120089
Introduction
Currently 270 million people have some kind of hemoglobinopathy
(1)
, the most common
genetic diseases in the world
(2)
, with clinical profiles that range from asymptomatic to lethal
(3)
.
Of the most common hemoglobinopathies in Brazil, it is estimated that one child with sickle
cell anemia is born in every thousand live births
(4)
and that the prevalence of thalassemias is
from 0.5% to 1.5% of the Brazilian population
(5)
. There is an additional two to ten million
people with the sickle cell trait
(6)
, asymptomatic individuals who need to be identified because
their children could have the disease
(7)
. In Goiás, according to the Ministry of Health, for every
100 births, four children are diagnosed as having the sickle cell trait
(8)
.
This high prevalence of genetic hemoglobin disorders justifies the need for free early
diagnosis programs and medical, social and psychological guidance with educational and
preventive measures for patients and laboratory screening of the family
(1,9)
.
The Brazilian government recognized the importance of adopting educational and preventive
measures for hemoglobinopathies when it made the Guthrie test for diagnosing the disorder
(10,11)
mandatory in 2002. This test identifies a number of congenital or infectious diseases in the neonatal
period which in turn allows health professionals to select prophylactic measures
(12)
. Consequently,
SUS, the government healthcare system, established guidelines for a “National Policy of
Comprehensive Care for People with Sickle Cell Disease and other Hemoglobinopathies” which
includes the promotion of lifelong learning and access to information and genetic counseling for
people with the disease or sickle cell trait and their families
(13)
.
Genetic counseling is an educational and preventive communication process for patients and
family members that, among other things, explains the occurrence or risk of a genetic disease
(14)
. Its
purpose is to help individuals understand themedical facts related to prognosis, diagnosis and treatment,
the role of heredity in the occurrence of the disorder, the likely impact on other family members, family
planning options and the most appropriate means of managing hematological changes
(15,16)
.
Genetic guidance is a type of genetic counseling which targets people at potential risk of
having children with genetic alterations such as hemoglobinopathies
(17)
. 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)
.
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.
Keywords:
Genetic counseling; Hemoglobinopathies/diagnosis; Primary prevention; Quality of life