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O objetivo desta revisão foi avaliar o impacto clínico dos polimorfismos de base única do gene TMPRSS6 nos parâmetros eritrocitários e no metabolismo do ferro e ir para além destas áreas e estudar os seus efeitos noutras patologias como a hemocromatose hereditária, fígado gordo não alcoólico, síndrome de pica, talassemias não dependentes de transfusão sanguínea, poliendocrinopatias autoimunes, doença de Parkinson, anemia da doença renal crónica, neoplasias e diabetes mellitus tipo 2. Foi efetuada uma revisão sistemática da bibliografia utilizando as bases de dados PubMed e PMC, tendo a pesquisa obtido 177 e 530 artigos, respetivamente. Destes, 36 foram incluídos na revisão.
Foi obtido um número de estudos significativo sobre os efeitos dos polimorfismos nos parâmetros eritrocitários e no metabolismo do ferro, o que levou a uma proposta de modificação do algoritmo de diagnóstico e tratamento da anemia ferropénica. Nas restantes patologias, embora o número de estudos para cada uma fosse reduzido, identificaram-se efeitos relevantes destes polimorfismos, com forte influência no prognóstico, principalmente no caso da hemocromatose hereditária e neoplasia da mama. Investigação adicional é necessária para clarificar estes efeitos.
É também apresentado um case report de um caso de anemia ferropénica que espelha a importância desta temática na prática clínica.
The aim of this review was to assess the clinical impact of TMPRSS6 single nucleotide polymorphisms on blood and iron parameters and go beyond these areas and evaluate their effects on other pathologies such as hereditary hemochromatosis, non-alcoholic fatty liver disease, Pica syndrome, non-transfusion dependent thalassemias, polyendocrine autoimmune syndromes, Parkinson’s disease, anemia of chronic kidney disease, cancer and type 2 diabetes mellitus. A systematic review was conducted using the PubMed and PMC databases which yielded 177 and 530 articles respectively. Of these, 36 were included in the review. Sufficient studies addressing the effects on blood and iron parameters were included to warrant a suggestion of iron deficiency anemia diagnostic and treatment algorithm change. On other pathologies, although the studies were few for each pathology and not all had a large number of participants, they show relevant effects of these variants, with strong prognostic effect on hereditary hemochromatosis and breast cancer mainly. Additional research is needed to clarify the role of these polymorphisms. A case report of a patient with iron deficiency anemia is also included to provide an example of how relevant this matter can be in clinical practice.
The aim of this review was to assess the clinical impact of TMPRSS6 single nucleotide polymorphisms on blood and iron parameters and go beyond these areas and evaluate their effects on other pathologies such as hereditary hemochromatosis, non-alcoholic fatty liver disease, Pica syndrome, non-transfusion dependent thalassemias, polyendocrine autoimmune syndromes, Parkinson’s disease, anemia of chronic kidney disease, cancer and type 2 diabetes mellitus. A systematic review was conducted using the PubMed and PMC databases which yielded 177 and 530 articles respectively. Of these, 36 were included in the review. Sufficient studies addressing the effects on blood and iron parameters were included to warrant a suggestion of iron deficiency anemia diagnostic and treatment algorithm change. On other pathologies, although the studies were few for each pathology and not all had a large number of participants, they show relevant effects of these variants, with strong prognostic effect on hereditary hemochromatosis and breast cancer mainly. Additional research is needed to clarify the role of these polymorphisms. A case report of a patient with iron deficiency anemia is also included to provide an example of how relevant this matter can be in clinical practice.
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Keywords
Anemia Ferro Matriptase-2 Polimorfismo Tmprss6