Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis

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.

 

Comments:

Thank you for providing information about a case of hereditary hemochromatosis type 4B involving a specific mutation in the SLC40A1 gene. Hereditary hemochromatosis is a genetic disorder that leads to excessive iron absorption by the body, resulting in iron overload. In type 4B, which is caused by gain-of-function mutations in the SLC40A1 gene, the encoded ferroportin protein becomes less sensitive to hepcidin, a hormone that regulates iron absorption.

Since hereditary hemochromatosis is a relatively rare condition, particularly type 4B, treatment approaches may vary and there may not be established guidelines specific to this subtype. However, the goal of treatment for hereditary hemochromatosis, regardless of the subtype, is to reduce iron levels in the body and prevent or manage complications associated with iron overload.

In the case you mentioned, the patient received a combination therapy consisting of red blood cell apheresis and oral deferasirox. Red blood cell apheresis is a procedure that involves removing excess red blood cells from the body, which also helps to reduce iron levels. Deferasirox is an oral iron chelator medication that binds to excess iron and helps in its elimination from the body.

The rationale behind this combination therapy is likely to provide a more effective approach to managing iron overload. Red blood cell apheresis can rapidly reduce iron levels, and oral deferasirox can help maintain iron balance over the long term by chelating and eliminating excess iron.

It's important to note that treatment approaches for hereditary hemochromatosis can vary depending on individual factors, including the severity of iron overload, the presence of complications, and the patient's overall health. Therefore, treatment decisions should be made in consultation with a healthcare professional experienced in managing hereditary hemochromatosis.

It's also worth mentioning that ongoing research and advancements in the understanding of hereditary hemochromatosis, including subtype 4B, may lead to further insights into the optimal treatment strategies for this condition.

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