Clinical characteristics of HFE C282Y/H63D compound heterozygotes identified in a specialty practice: key differences from HFE C282Y homozygotes

被引:0
作者
Singal, Mukul [1 ,2 ,5 ]
Mahmoud, Amir [3 ]
Phatak, Pradyumna Dinkar [1 ,2 ,3 ,4 ]
机构
[1] Rochester Gen Hosp, Hematol & Oncol, Rochester, NY USA
[2] Rochester Gen Hosp, Dept Internal Med, Rochester, NY USA
[3] Rochester Gen Hosp, Internal Med Residency Program, Rochester, NY USA
[4] Mary M Gooley Hemophilia Ctr, Rochester, NY USA
[5] Rochester Gen Hosp, Hematol & Oncol, Rochester, NY 14621 USA
关键词
Iron overload; hemochromatosis; HFE gene mutations; HFE C282Y/H63D compound heterozygotes; HFE C282Y homozygotes; NATURAL-HISTORY; SERUM FERRITIN; IRON STORES; HEMOCHROMATOSIS; MUTATIONS; H63D; GENE; PREVALENCE; RISK;
D O I
10.1080/17474086.2024.2337950
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background: Patients with p.C282Y homozygous (p.C282Y) HFE mutations are more likely to develop hemochromatosis (HC) than p.C282Y/p.H63D compound heterozygotes (p.C282Y/H63D). Research design and methods: We conducted a retrospective chart review of 90 p.C282Y and 31 p.C282Y/H63D patients at a referral practice to illustrate the differences in the natural history of the disease in these two HC cohorts. Results: Over a median follow-up of 17 years, p.C282Y had higher mean serum ferritin (1105 mg/dL vs. 534 mg/dL, p = 0.001) and transferrin saturations (75.3% vs. 49.5%, p = 0.001) at diagnosis. p.C282Y underwent more therapeutic phlebotomies (TP) till de-ironing (mean 24 vs. 10), had higher mean mobilized iron stores (4759 mg vs. 1932 mg), and required more annual maintenance TP (1.9/year vs. 1.1/year, p = 0.039). p.C282Y/H63D were more likely to have obesity (45.2% vs. 20.2%, p = 0.007) at diagnosis, with a non-significant trend toward consuming more alcohol. There was no significant difference in the development of HC-related complications between the two cohorts. Conclusion: sp.C282Y have a higher mobilizable iron and require more TP. p.C282Y/H63D likely require additional insults such as obesity or alcohol use to develop elevated ferritin. De-ironing may mitigate the risk of developing HC-related complications.
引用
收藏
页码:145 / 152
页数:8
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