ArticleWorld journal of clinical cases2020
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis.
Article in World journal of clinical cases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Case Report: Secukinumab for the treatment of severe psoriasis in a patient with hereditary hemochromatosis.Frontiers in medicine · 2025Article
- Genotype-phenotype correlation analysis of patients with thalassemia in quanzhou city, southeast of China.Heliyon · 2024Article
- The role of mechanically sensitive ion channel Piezo1 in bone remodeling.Frontiers in bioengineering and biotechnology · 2024Review
- A Mendelian randomization analysis of inflammatory skin disease risk due to mineral deficiencies.Frontiers in nutrition · 2024Article
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11 authors.
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Abstract
backgroundIt 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.
aimTo investigate the genetic background of a patient with hemochromatosis complicated by psoriasis on both lower extremities.
methodsTen 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 left lateral tibia. Single photon emission computed tomography showed radial dots of abnormal concentration in the upper end of the left tibia and radial symmetry of abnormal concentrations in joints of the extremities. The patient showed several hot spot mutations of the
resultsThe patient was found to carry the -α
conclusionThe selection of genetic detection methods for hemochromatosis still needs to be based on an in-depth study of the clinical manifestations of the disease.
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