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[Clinical Study of A Family with Hereditary Hemochromatosis Type 4 Caused by Novel SLC40A1 c.G205A Mutation].
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Guan Wei, Yang Zhi-Rui, Liu Li-Ying, Fang Hai-Yan, Zhu Hai-Yan
Аннотация
OBJECTIVE: To study the genetic characteristics and clinical manifestations of a family with hereditary hemochromatosis (HH) type 4 caused by SLC40A1 c.G205A mutation.
METHODS: Clinical investigation and genetic testing were carried out on one hemochromatosis patient and her family members (7 individuals in total) at the PLA General Hospital. Sanger sequencing was used to validate the mutation site and a pedigree chart was drawn. For the patients, tests were performed to measure ferritin levels, liver function, glucose tolerance, pituitary function and thyroid function; additionally, liver MRI was performed to assess iron overload.
RESULTS: Genetic sequencing revealed that among the 7 family members, 2 cases carried SLC40A1 c.G205A heterozygous mutation, both of which exhibited elevated ferritin and liver enzyme levels, and were diagnosed as HH type 4. The inheritance pattern of hemochromatosis caused by the heterozygous mutation of SLC40A1 c.G205A is autosomal dominant inheritance.
CONCLUSION: SLC40A1 c.G205A heterozygous mutation can cause type 4 hemochromatosis, which is closely related to serum ferritin elevation. Abnormal liver function is often an early clinical manifestation of this disease.
METHODS: Clinical investigation and genetic testing were carried out on one hemochromatosis patient and her family members (7 individuals in total) at the PLA General Hospital. Sanger sequencing was used to validate the mutation site and a pedigree chart was drawn. For the patients, tests were performed to measure ferritin levels, liver function, glucose tolerance, pituitary function and thyroid function; additionally, liver MRI was performed to assess iron overload.
RESULTS: Genetic sequencing revealed that among the 7 family members, 2 cases carried SLC40A1 c.G205A heterozygous mutation, both of which exhibited elevated ferritin and liver enzyme levels, and were diagnosed as HH type 4. The inheritance pattern of hemochromatosis caused by the heterozygous mutation of SLC40A1 c.G205A is autosomal dominant inheritance.
CONCLUSION: SLC40A1 c.G205A heterozygous mutation can cause type 4 hemochromatosis, which is closely related to serum ferritin elevation. Abnormal liver function is often an early clinical manifestation of this disease.