| Full text | |
| Author(s): |
Silva Fonseca, Paula Fernanda
[1]
;
Cancado, Rodolfo Delfini
[2]
;
Naoum, Flavio Augusto
[3]
;
Dinardo, Carla Luana
[4, 5]
;
Hencklain Fonseca, Guilherme Henrique
[6]
;
Menosi Gualandro, Sandra Fatima
[7]
;
Krieger, Jose Eduardo
[1]
;
Pereira, Alexandre Costa
[1]
;
Brissot, Pierre
[8, 9]
;
Junior Lima Santos, Paulo Caleb
[10, 1]
Total Authors: 10
|
| Affiliation: | [1] Univ Sao Paulo, Heart Inst InCor, Lab Genet & Mol Cardiol, Med Sch, Av Doutor Eneas de Carvalho Aguiar 44, BR-05403900 Sao Paulo, SP - Brazil
[2] Santa Casa Med Sch, Hematol & Hemotherapy Sect, Sao Paulo - Brazil
[3] Acad Ciencia & Tecnol, Sao Jose Do Rio Preto - Brazil
[4] Univ Sao Paulo, Sao Paulo, SP - Brazil
[5] Fundacao Pro Sangue, Hemoctr Sao Paulo, Sao Paulo, SP - Brazil
[6] Univ Sao Paulo, Med Sch, Hosp Clin, Hematol Serv, Sao Paulo - Brazil
[7] Univ Sao Paulo, Med Sch, Hosp Clin, Hematol & Hemotherapy Discipline, Sao Paulo - Brazil
[8] Univ Rennes, Pontchaillou Univ Hosp, Liver Dis Unit, Rennes - France
[9] Natl Reference Ctr Rare Iron Overload Dis Genet O, Rennes - France
[10] Univ Fed Sao Paulo UNIFESP, Dept Pharmacol, Sao Paulo - Brazil
Total Affiliations: 10
|
| Document type: | Journal article |
| Source: | BMC MEDICAL GENETICS; v. 19, JAN 5 2018. |
| Web of Science Citations: | 0 |
| Abstract | |
Background: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. In the present study, our aim was to evaluate whether domains of QL are different according to genotypic groups in patients suspected of HH. Methods: Seventy-nine patients with primary iron overload were included and two genotypic groups were formed (group 1: homozygous genotype for the HFE p.Cys282Tyr mutation; group 2: other genotypes). Results: Group 1 had higher means of plasma transferrin saturation (86 +/- 19%) and serum ferritin (1669 +/- 1209 ng/mL) compared to group 2 (71 +/- 12%, 1252 +/- 750 ng/mL, respectively; p = 0.001). Four domains were significantly different among groups 1 and 2: physical functioning (p = 0.03), bodily pain (p = 0.03), vitality (p = 0.02) and social functioning (p = 0.01). Conclusions: Our main finding was that patients with p. Cys282Tyr homozygosity had a worse QL scenario assessed by SF-36, compared with patients with iron overload without the same genotype. Being aware of this relationship between genotypes and QL might be helpful in the overall management of patients suspected of hereditary hemochromatosis. (AU) | |
| FAPESP's process: | 13/20614-3 - Pharmacogenetic analyses for cardiovascular drugs focusing on implementation |
| Grantee: | Paulo Caleb Júnior de Lima Santos |
| Support Opportunities: | Scholarships in Brazil - Young Researchers |
| FAPESP's process: | 13/09295-3 - Pharmacogenetic of cardiovascular system drugs focusing on implementation |
| Grantee: | Paulo Caleb Júnior de Lima Santos |
| Support Opportunities: | Research Grants - Young Investigators Grants |