什么是血色瘤症？原因，症状和治疗

该疾病导致铁积聚在体内的各种器官中，包括肝脏。

Hemochromatosis is a disorder that causes your body to absorb more iron than it should, a condition called iron overload. It affects about 1 million people in the United States, making it one of the most common genetic diseases in the country. (1)

身体需要一些铁用于血液生产，专门用于血红蛋白的生产，红细胞中发现的蛋白质。血红蛋白的工作是将氧气从肺部携带到所有身体的组织。通常，大多数身体的铁被发现在红细胞中。（2)

Iron is absorbed into the body via the food you eat and any supplements containing iron you take. Healthy people absorb about 10 percent of the iron they consume, whereas people with hemochromatosis can absorb up to 3 times that much. Over time, this can mean that they retain between 5 and 20 times more iron than the body needs. (3)

The body stores that excess iron in the organs, especially the liver, as well as the heart and the胰腺， 根据Carlos Romero-Marrero, MD，在克利夫兰诊所的肝脏部分头部。

“The issue when you have too much iron, or iron overload, is that it can lead tochronic liver diseaseorcirrhosisand increase your risk for liver cancer,” says Dr. Romero-Marrero.

遗传性血细胞化与二次血细胞瘤症

有两种类型的成人血色沉着病:hereditary (also called primary hemochromatosis), which is a genetic disease, and secondary. The latter form of the disease is much rarer and is caused by another underlying disease or condition. Blood transfusions are the main cause of secondary hemochromatosis. (4)

Hereditary hemochromatosis is caused by a defect in the gene HFE, which triggers the body to absorb more iron than it needs, says Romero-Marrero. There are two common mutations of HFE: C28Y and H63D. If someone inherits C28Y from both parents, they are at risk for iron overload and developing hemochromatosis. Inheriting H63D from both parents is less likely to cause iron overload.

如果一个人从一个父母继承突变，那么它们将成为疾病的载体。虽然它们通常会吸收比普通人更有熨斗，但它们通常不会发展血色致瘤。据估计，美国群体的10％携带基因突变。（3）

Two rare forms of hemochromatosis, neonatal hemochromatosis and juvenile hemochromatosis, are caused by different gene mutations. (5,6)

血色瘤症的危险因素

Factors that increase the risk of developing hemochromatosis include these characteristics:

作为高加索人About 1 in 8 to 12 Caucasians in the United States is a carrier for hemochromatosis, meaning they have a single copy of the gene defect. Approximately 5 in 1,000 have two copies of the HFE defect, which puts them at risk of developing hemochromatosis. (7)

存在男性与女性相比，男性的疾病率增加了24倍。（8）怀疑，月经有助于保护女性免受铁商店建立铁商店，因为它们每月都会失去血液。

年龄较大的年龄A man is most likely to develop symptoms of hemochromatosis between age 40 and 60. In women, symptoms usually appear after age 50 or whenever they stop having their monthly period. (3)

Genetics如果一个人继承两份故障基因C28Y的副本 - 来自每个父母的一个副本 - 患血细胞症的风险较高。

Chronic Liver DiseaseIndividuals with chronicliver disease， 包含非酒精性脂肪肝病,chronic hepatitis C, and particularly酒精性肝病，肝脏铁过载的风险增加。这种类型的铁堆积不同于遗传性血细胞化，尽管可以具有遗传性血细胞症和另一种形式的肝病。（9)

Hemochromatosis Life Expectancy

If a person is diagnosed early and treated before the onset of iron overload, hemochromatosis won’t shorten their life expectancy. If the disease progresses to cirrhosis, life expectancy is shortened and there’s an increased risk of death from liver cancer. (10)

Hemochromatosis Symptoms

A person might have hemochromatosis and not necessarily know they have it, says Romero-Marrero. “There are some people with hemochromatosis who never have symptoms,” he says. About 3 out of 4 people who are experiencing symptoms at the time of diagnosis have abnormal liver function. (11)

The disease can include these symptoms:

• Joint pain
• Fatigue
• Unexplained weight loss
• 异常的青铜或灰色肤色
• 腹痛
• Loss ofsex drive

血细胞症诊断

虽然在过去的人中可能有多年甚至几十年的血细胞症，但现在很少这种情况。由于常规血液筛查的异常或可以通过遗传测试的结果被鉴定为儿童，如果已知在家庭中血细胞瘤症，可以给予遗传测试的结果。

These tests may be done to diagnose hemochromatosis:

Transferrin Saturation TestThetransferrin saturation testindicates how much iron is bound to the protein that carries iron in the blood. A value of 45 percent or higher is considered abnormal.

Serum Ferritin TestThe血清铁蛋白测试detects the amount of ferritin, which is a protein that stores iron, present in the blood. Levels over 300 micrograms per liter (μg/L) in men and 200μg/L in women are considered abnormal. Levels above 1,000μ男性或女性的G / L表明铁过载和器官损坏的很大机会。

Genetic TestIf either of the aboveblood testsshows an abnormal level of iron, a different blood test can check for the presence of two copies of the C282Y gene mutation to confirm hemochromatosis.

Liver Biopsy肝脏biopsymay also be performed. In this procedure, a tiny piece of liver tissue is removed and examined for signs of damage or disease.

Hemochromatosis Treatment

“治疗原发性血细胞瘤的最佳方法是通过静脉切开或吸血来摆脱多余的铁，”Romero-Marrero说。治疗基本上与常规献血相同，因此它是便宜，安全和常规的。

“通常你每周一次开始吸血血液，然后逐渐下降到每月一次，然后每三个月一次，”他说。继续监测铁水平以确保该人不会成为贫血。

“患有血细胞瘤的许多人需要几个月的静脉曲张，然后才能获得健康的铁水平，”他说。

While some blood donation programs accept blood from otherwise healthy people with hereditary hemochromatosis, the American Red Cross does not. (12) If you’re interested in donating blood, the U.S. Food and Drug Administration maintains a list of blood banks, hospitals, and other establishments that have been grantedpermission to collect blood and blood products from people with hemochromatosis为了...的目的输血。

Hemochromatosis Complications

If hemochromatosis goes untreated, it can damage various parts of the body. Excess iron buildup happens not only in the liver but also in the heart, pancreas, joints, and睾丸。Complications can include cirrhosis of liver,heart failure,osteoarthritis,diabetes, and阳痿。

对血细胞瘤症的治疗可以改善许多这些二级条件，这取决于诊断时的器官损伤的水平。

患有血细胞瘤的人也应该意识到高级酒精摄入量与肝脏中较高的铁浓度和肝脏肝硬化的风险更高。（13) Cirrhosis of the liver, in turn, raises the risk of developing liver cancer.

Living With Hemochromatosis: Food and Alcohol

Because people with hemochromatosis absorb more iron than normal, it’s important for them to monitor their diet.Iron-rich foodssuch as beef, poultry, and organ meats should be limited. Fortified breakfast cereals and dietary supplements that contain iron orvitamin C（增加铁吸收）应该避免。

People with hemochromatosis should additionally limit their alcohol intake, and a person with hemochromatosis who has already has been diagnosed with cirrhosis of the liver should cut alcohol out completely.