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A model of genetic guidance for hemoglobinopathy patients
Rev Bras Hematol Hemoter. 2012;34(5):339-44
14. Brunoni D. Aconselhamento genético. Rev Ciênc Saúde Coletiva.
2002;7(1):101-7.
15. Pina–Neto JM. Aconselhamento genético. J Pediatr. 2008;84(4):20-6.
16. Muthuswamy V. Ethical issues in genetic counseling whit special
reference to haemoglobinophaties. Indian J Med Res. 2011;134:547-51.
17. Ramalho AS, Magna LA. Aconselhamento genético do paciente com
doença falciforme. Rev Bras Hematol Hemoter. 2007;29(3):229-32.
18. Guimarães CT, Coelho GO. A importância do aconselhamento genético
na anemia falciforme. Cien Saude Colet. 2010;15 Suppl 1:1733-40.
19. Guedes C. O campo da anemia falciforme e a informação genética: um
estudo dobre aconselhamento genético [dissertação]. Brasília: Instituto
de Ciências Sociais e Departamento de Sociologia – Universidade de
Brasília, 2006.
20. OliveiraRA, NetoAP.Anemias e Leucemias. Conceitos básicos e diagnóstico
por técnicas laboratoriais. 1rd. ed. São Paulo: Roca, 2004. 436p.
21. Silvestroni E, Bianco I. Screening for microcytemia in Italy: analysis of
data collected in the past 30 years. Am J Hum Genet. 1975;27(2):198-212.
22. Bonini-Domingos CR. Hemoglobinopatias no Brasil - variabilidade genética
e metodologia laboratorial [thesis]. São Paulo: Instituto de Biociências,
Letras e Ciências Exatas, Universidade Estadual Paulista; 1993. 231 p.
23. Marengo-Rowe AJ. Rapid electrophoresis and quantitation of
haemoglobin on cellulose acetate. J Clin Pathol. 1965;18(6):790-2.
24. Vella F. Acid-agar gel electrophoresis of human hemoglobin. Am J Clin
Pathol. 1968;49(3):440-2.
25. Papayannopoulos R, Stamatonyannopoulos G. Stains for inclusions
bodies. “In: Standartization of laboratory reagents and methodos for
detection of haemoglobinopathies”. Atlanta: Hew Publications, 1974.
26. Monteiro Filho G. Segredos da estatística em pesquisa científica. 1ª
edição. Goiânia: Vieira, 2004. 188 p.
27. Giordano PC. Prospective and retrospective primary prevention of
hemoglobinopathies. Clin Biochem. 2009;42(18):1757-66.
28. Amato A, Giordano PC. Screening and genetic diagnosis of
hemoglobinopathies in Southern and Northern Europe: Two examples.
Mediterr. J. Hematol. Infect. Dis. 2009. [cited 2012 March 2] Available
from: http://www.mjhid.org/article/view/4658/e2009007. Acesso em 02
de março de 2012
29. Fucharoen S, Winichagoon Pranee. Prevention and control of thalassemia
in Asia. Asian Biomed. 2007;1(1):1-6.
30. Fattoum S. Evolution of Hemoglobinopathy Prevention in Africa:
Results, Problems and Prospect. 2009. [cited 2012 March 4] Available
from: http://www.mjhid.org/article/view/5012/e2009005.
Appendix 1
Questionnaire to assess the knowledge of patients
with hemoglobinopathies prior to genetic guidance
Questionnaire
Part 2: Evaluation of the level of knowledge of patients with
hemoglobinopathies
1) Have you ever heard of hereditary anemia or hemoglobinopathies or sickle
cell disease and thalassemia?
A - ( ) Yes, hereditary anemia
B - ( ) Yes, hemoglobinopathies
C - ( ) Yes, sickle cell disease or thalassemias
D - ( ) I do not know
Note: answers A or B: patient has knowledge of broader terms. Answer C:
he or she only knows the name of his or her own disease. Answer D: has no
knowledge of nomenclature.
2) Can you define or explain what your illness is (what you have?)
A - ( ) anemia that has no cure
B - ( ) anemia that requires continued treatment
C - ( ) sickle cell anemia (name only)
D - ( ) sickle cell disease (name only)
E - ( ) sickle cell trait (name only)
F - ( ) thalassemia (name only)
G - ( ) I do not know
Note: Answer A: knowledge of one of the most relevant aspects of the disease.
Answer B: knowledge about the character of an incurable genetic disease.
Answers C, D, E and F: knowledge only of the name, but without explanation.
Response G: has no knowledge about the type of hereditary anemia.
3) What is the cause of your illness? (Why do you have this disease?)
A - ( ) heredity (came from my parents / ancestors)
B - ( ) problem inherited from my parents / ancestors
C - ( ) red blood cells or hemoglobin are different
D - ( ) blood doesn’t have oxygen
E - ( ) I do not know
Note: Answers A and B: knowledge about the hereditary nature of the disease.
Answers C and D: some pathophysiological knowledge, but does not address
heredity. Answer E: has no knowledge of heredity.
4) Do you know if there is a difference between a person who is sick and a
person with sickle cell trait?
A- ( ) the person with the trait does not feel anything, or doesn’t need treatment
B - ( ) the patient has symptoms and must be treated
C - ( ) the person with the trait only carries the gene and does not get sick
D - ( ) the person with the trait is half affected
E - ( ) the person with the trait is half normal
F - ( ) the trait person is AS and the sick person is SS
G - ( ) the person with the trait is SC
H - ( ) I do not know
Note: Answers A, B and C show knowledge about the condition of
asymptomatic carriers. Answers D, E and F: has knowledge about half of the
altered genetic load, but does not differentiate between the patient and carrier.
Response G: considers SC hemoglobinopathy to be a trait. Response H: does
not differentiate between trait and disease.
5) Do you know what genetic guidance is?
A - ( ) Yes, it’s when a professional transmits information to us about the
disease.
B - ( ) Yes, it’s when a professional tells us what the disease is.
C - ( ) attended lectures
D - ( ) No
Note: Answers A and B: knows about the practice of genetic guidance – it
raises the level of knowledge. Answer C: has participated in an educational
process - raises the level of knowledge. Answer D: has no knowledge about
this educational process.