Journal of Genetic Counseling

, Volume 23, Issue 5, pp 770–777 | Cite as

Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping

  • Bruna Leandro
  • Milena Paneque
  • Jorge Sequeiros
  • Graça PortoEmail author
Original Research


There is a general consensus that HFE- related Hereditary Haemochromatosis (HFE-HH) should be diagnosed at early stages in pre-symptomatic individuals, in order to prevent the most severe consequences of iron overload. In Portugal, despite an increasing number of requests for genetic diagnosis of this rare disease, there is not a corresponding increase in requests for genetic counselling. The objective of the present study was to evaluate physicians’ main motivations for requesting HFE genotyping or genetic counselling for HFE-HH. We assessed current medical practices regarding family testing and diagnosis and discuss whether these can be improved in order to increase the effectiveness of disease prevention. Our results show there is a general lack of knowledge about the selection of patient cases that should be sent for genetic counseling or for molecular testing of HFE-HH by physicians (especially by general practitioners). The lack of family-based screening may indirectly compromise the efficiency of disease prevention in terms of early diagnosis and treatment. We concluded it is necessary to circulate more information about Hereditary Haemochromatosis among health professionals in order to improve strategies for its early diagnosis.


Haemochromatosis HFE genotyping Genetic counseling Medical education General practitioners 



We are grateful to all participants for their time and valuable contributions to this study. This work was produced within the framework of a research seminar of the professional master course in genetic counseling of ICBAS, Universidade do Porto, and was funded in part by the Calouste Gulbenkian Foundation, through a fellowship to Bruna Leandro, and by the Portuguese Foundation for Science and Technology (FCT), through a postdoctoral fellowship to Milena Paneque (SFRH/BPD/66484/2009) and through the project PIC/IC/82785/2007. We also thank Carol Ann Harley, at the IBMC, for detailed revision of the manuscript.

Disclosure of Interest

The authors declare that they do not have any actual or potential conflict of interest.

They have full control of all primary data and they agree to allow the journal to review their data if requested.

Supplementary material

10897_2013_9681_MOESM1_ESM.docx (19 kb)
ESM 1 (DOCX 18 kb)


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Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Bruna Leandro
    • 1
    • 2
  • Milena Paneque
    • 1
    • 2
  • Jorge Sequeiros
    • 1
    • 2
  • Graça Porto
    • 1
    • 2
    • 3
    • 4
    Email author
  1. 1.ICBASUniversidade do PortoPortoPortugal
  2. 2.Centre for Predictive and Preventive Genetics (CGPP), IBMC – Institute for Molecular and Cell BiologyUniversidade do PortoPortoPortugal
  3. 3.Serviço de Hematologia, Hospital de Santo António, Centro Hospitalar do PortoPortoPortugal
  4. 4.Serviço de Hematologia, Centro Hospitalar do Porto - Hospital Geral de Santo AntónioPortoPortugal

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