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X Demographics
| Title |
Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis
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|---|---|
| Published in |
Medical Molecular Morphology, June 2023
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| DOI | 10.1007/s00795-023-00359-8 |
| Pubmed ID | |
| Authors |
Jing Hu, Yuan Li, Li Zhang, Guangxin Peng, Fengkui Zhang, Xin Zhao |
| Abstract |
Hereditary hemochromatosis type 4 is an autosomal-dominant inherited disease characterized by a mutation in the SLC40A1 gene encoding ferroportin. This condition can be further subdivided into types 4A (loss-of-function mutations) and 4B (gain-of-function mutations). To date, only a few cases of type 4B cases have been reported, and the treatment has not been clearly mentioned. Here, we report a genotype of hereditary hemochromatosis type 4B involving the heterozygous mutation c.997 T > C (p. Tyr333His) in SLC40A1. The patient was treated with red blood cell apheresis every month for 1 year, followed by oral deferasirox, and the combined therapy was found to be effective. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |