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A model of genetic guidance for hemoglobinopathy patients
Rev Bras Hematol Hemoter. 2012;34(5):339-44
The laboratory diagnoses of 67 (87.0%) of the 77 patients with
hemoglobinopathies were confirmed, demonstrating that most patients
in this studyhad sickle cell anemia. Of the 10 (13%) remainingpatients,
one individual was diagnosed with sickle cell trait and one did not
have laboratory abnormalities, although both reported the presence of
clinical manifestations. Moreover, the association of sickle cell anemia
and thalassemia, represented by an increase in fetal hemoglobin and
hemoglobin H, had not been detected previously.
Of the 156 family members, 111 (71.2%) presented some
kind of hemoglobin change; four (2.6%) family members had
hemoglobinopathies and 107 (68.6%) had heterozygous forms of
diseases. All family members with hemoglobin alterations received
information about the test results and, specifically, the four family
members diagnosed with the disease were advised to seek medical
help because they did not know about their clinical conditions.
Besides confirmation of the diagnosis, 77 patients provided
data in the interview about sociodemographic characteristics and
their knowledge on the subject. The majority of cases were male,
over 18 years old, of mixed race and had not completed primary
school (Table 2).
Table 2 - Sociodemographic characteristics of individuals with
hemoglobinopathies (n = 77)
Characteristic
n (%)
Gender
Male
39 (50.6)
Female
38 (49.4)
Age
0 to 11
24 (31.2)
12 to17
13 (16.9)
≥18
40 (51.9)
Ethnical background
White
14 (18.2)
Mixed race
38 (49.4)
Black
25 (32.5)
Place of Birth
Goiás
48 (62.3)
Tocantins
9 (11.7)
Other
20 (26.0)
Place of Residence
Goiás
74 (96.1)
Mato Grosso
3 (3.9)
Occupation
Student
41 (53.2)
Homemaker
9 (11.7)
Others
27(35.1)
Marital Status
Single
36 (46.8)
Married
17 (22.1)
Under 12 years old*
24 (31.2)
Educational Level**
Primary school incomplete
29 (37.7)
Primary school complete
14 (18.2)
Secondary school incomplete
12 (15.6)
Secondary school complete
22 (28.6)
*Marital status of minors under twelve was not included
** The educational level of the parents of children under 12 was included
Table 3 - Distribution of hemoglobinopathy patients by knowledge level
before and after genetic guidance (n = 77)
Level of knowledge
Pre test
n (%)
Post test
n (%)
Low
53 (68.8)
3 (3.9)
Medium
22 (28.6) 11 (14.3)
High
2 (2.6)
63 (81.8)
p-value < 0.001 – Descartes’ Rule of Signs
Table 4 - Changes in knowledge of patients with hemoglobinopathies (n = 77)
Difference in knowledge
n (%)
Worse
- (0.0)
Remained the same
7 (9.1)
Better
70 (90.9)
p < 0.001 – Descartes’ Rule of Signs
Fifty-three (68.8%) patients had little knowledge at the time
of the interview (Table 3), that is, they were unable to demonstrate
the knowledge about terminology, concepts, causes and heredity
needed to answer simple questions about the disease.
Patients with hemoglobinopathies received genetic
guidance and after 3 months returned to HC-UFG for their level
of assimilated knowledge to be assessed. On the basis of this
cognitive assessment, 63 respondents (81.8%) had a high level of
assimilated knowledge after genetic guidance (Table 3).
Discussion
As a result of the genetic guidance provided by the researchers
of this study, the majority of patients with hemoglobinopathies who
entered the study with a low level of knowledge demonstrated a high
level of assimilated knowledge after the procedure. The low level of
information at the beginning of the research can be explained by the
fact that most interviewees had a low educational level and had not
participated in guidance programs about this genetic condition.
This educational process increased the knowledge of more than
80% of patients about key aspects of the disease such as the process
of gene transmission to offspring and the differences between
asymptomatic carriers and homozygous individuals, concepts
essential for the adoption of preventive measures. Moreover, genetic
guidance may also have helped reinforce and retain the knowledge
of the 11 participants (14.3%) who did not show any improvement
at the end of the study but remained aware of what was presented
after participating in this educational process.
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 of
gene therapy and the incurability of the disorder. Viana-Baracioli
et al.
(9)
also claim that proper guidance can minimize clinical,
psychosocial and financial problems related to the disease.
At the end of the study the knowledge of none of the
individuals was less. On the contrary, the knowledge of 70
patients (90.9%) was higher (Table 4).