Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis.

ABSTRACT:

Background

It is not easy to identify the cause of various iron overload diseases because the phenotypes overlap. Therefore, it is important to perform genetic testing to determine the genetic background of patients.

Aim

To investigate the genetic background of a patient with hemochromatosis complicated by psoriasis on both lower extremities.

Methods

Ten years ago, a 61-year-old male presented with iron overload, jaundice, hemolytic anemia and microcytic hypochromic anemia. Computed tomography of the left knee joint showed enlargement of the tibial medullary cavity and thinned bone cortices. Magnetic resonance imaging showed hepatic hemochromatosis, extensive abnormal signals from bone marrow cavities and nodular lesions in the lateral medullary cavity of the upper le

SUBMITTER: Ruan DD 

PROVIDER: S-EPMC7723718 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature