Koshy Abraham, Mukkada Roy J, Chettupuzha Antony P, Francis Jose V, Kandathil Julio C, Mahadevan Pushpa
Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India.
Radiology, VPS Lakeshore Hospital, Kochi, India.
J Clin Exp Hepatol. 2020 Mar-Apr;10(2):163-169. doi: 10.1016/j.jceh.2019.04.051. Epub 2019 Apr 29.
Primary hemochromatosis is unusual in India. The homeostatic iron regulator (HFE) gene C282Y mutation, a common cause for hemochromatosis in Europe, is considered almost nonexistent in India. We are reporting a case of hemochromatosis with the HFE gene C282Y mutation and two other adult cases with a novel hemojuvelin (HJV) mutation from Kerala.
Of 434 cases with chronic liver disease, 3 cases were identified with the serum ferritin level of more than 1000 ng/mL and primary hemochromatosis after excluding secondary causes. Whole exome sequencing, including genes HFE, HJV, SLC40A1, TFR2, FTH1, HAMP, SKIV2L, TTC37, and BMP2, was performed for blood samples in all 3 cases.
One patient with hemochromatosis had a homozygous HFE gene C282Y mutation, and two other adult cases had a novel homozygous HJV D355Y mutation. This is the first report of hemochromatosis associated with the HFE C282Y mutation from Kerala and the second report in India. This is the second report of hemochromatosis associated with an HJV mutation from India.
HJV mutations may explain some of the adult onset primary hemochromatosis in India.
原发性血色素沉着症在印度并不常见。稳态铁调节因子（HFE）基因C282Y突变是欧洲血色素沉着症的常见病因，在印度几乎不存在。我们报告了一例患有HFE基因C282Y突变的血色素沉着症病例以及另外两例来自喀拉拉邦的患有新型血色素沉着蛋白（HJV）突变的成人病例。
在434例慢性肝病患者中，排除继发原因后，确定3例血清铁蛋白水平超过1000 ng/mL且患有原发性血色素沉着症。对所有3例患者的血液样本进行了全外显子组测序，包括HFE、HJV、SLC40A1、TFR2、FTH1、HAMP、SKIV2L、TTC37和BMP2基因。
一名血色素沉着症患者有纯合的HFE基因C282Y突变，另外两名成人病例有新型纯合的HJV D355Y突变。这是喀拉拉邦首例与HFE C282Y突变相关的血色素沉着症报告，也是印度第二例。这是印度第二例与HJV突变相关的血色素沉着症报告。
HJV突变可能解释了印度部分成人起病的原发性血色素沉着症。
