Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis

Carla Luana Dinardo,Paulo Caleb Junior Lima Santos,Rodolfo Delfini Cançado,José Eduardo Krieger,Sandra Fatima Menosi Gualandro,Flavio Augusto Naoum,Paula Fernanda Silva Fonseca,Pierre Brissot,Alexandre Costa Pereira,Guilherme Henrique Hencklain Fonseca

doi:10.1186/s12881-017-0513-5

Abstract

BackgroundHereditary 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.MethodsSeventy-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).ResultsGroup 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).ConclusionsOur 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.

Highlights

Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs
Other HH types are named non-HFE hemochromatosis: type 2 or juvenile hemochromatosis (JH), sub-divided into 2 forms, type 2A, related with mutations in the HJV gene, and type 2B, related with mutations in the HAMP gene; type 3 is related to mutations in the TFR2 gene; and type 4 is related to mutations in the SLC40A1 gene [3, 4]
Our aim was to explore whether domains of quality of life (QL), as evaluated by the serum ferritin (SF)-36, were different according to genotypic groups in patients with suspected HH

Summary

Introduction

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). Different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. The diagnosis is essentially based on iron assessment by laboratory tests, magnetic resonance imaging (MRI), and genetic testing. Other genotypes, such as compound heterozygosity for the Fonseca et al BMC Medical Genetics (2018) 19:3 p.Cys282Tyr/p.His63Asp mutations, heterozygosity or a negative result for these two genetic variants, can be observed in patients with suspected HH iron overload [5, 6]

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