Iron Disorders

Iron Disorders Part 1

What is the cause of African Iron Overload ?

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Iron found in the beer making barrels

Iron Disorders Part 1
Iron Disorders

What is the inheritance pattern of hyper-ferritinemia cataract syndrome?

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AD

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Which types of malignancies cause the majority of excessively high ferritin?

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Hematologic malignancies

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What chronic inflammatory diseases can cause iron overload?

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Metabolic syndrome and diabetes

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Iron Disorders

What are some examples of acute conditions in which the ferritin is elevated?

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Severe HIV and HLH both can cause hemophagocytosis

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How can phlebotomy be used to distinguish primary versus secondary iron overload in somebody with underlying liver disease?

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In somebody with underlying liver disease phlebotomy would not reduce ferritin levels while it would not somebody with primary hemochromatosis

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Can phlebotomy replace other modalities to diagnose iron overload?

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Yes

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Iron Disorders

How much iron is removed with a single unit of phlebotomy of 500 mL of blood ?

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250mg

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When would you consider a liver biopsy besides liver MRI for patients with iron overload?

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When there are elevated liver function enzymes as well as hyperferritinemia and it is unclear which was the precipitating factor

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What is the gold standard for determining liver iron overload?

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Liver biopsy

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What type of MRI scans can be used to detect iron overload?

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T2 and R2

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What TSAT cut-offs correlate well with iron overload in men and women respectively?

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45 and 40%

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What would iron overload with macrocytic anemia suggest?

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B12 deficiency

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Iron Disorders

What should the MCV be with hereditary hemochromatosis?

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Normal

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Is an MRI of the liver or heart required at initial screening of hemochromatosis?

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No it can be held until transferrin saturation levels are available

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Iron Disorders

Which endogenous enzyme can help mitigate the effects of excess iron?

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Glutathione S transferase

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Which molecule causes the tremendous amount of damage when iron overload occurs?

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Hydroxyl radical

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Which condition with ineffective erythropoesis leads to significant iron overload? Thalassemia

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Iron Disorders

Should children and families with hemochromatosis be screened?

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No can wait until adulthood

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What are the 2 concerning gene mutations for hemochromatosis?

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C82Y and H63D

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Mutations in which gene results in hemochromatosis?

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HFE

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Which 2 organs are the most concerning for iron overload?

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Liver and heart

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How much iron is a single unit of packed red blood cells?

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250 mg

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What are the 3 main causes of iron overload?

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Hemochromatosis as well as ineffective erythropoiesis from thalassemia and red blood cell transfusions

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How is iron recycled in the body?

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Macrophages in the reticuloendothelial system in the liver spleen and bone marrow

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Is heme iron or nonheme iron better absorbed ?

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Heme iron

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Where is the majority of iron in the body found?

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Circulating red blood cells

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What is the normal iron content of the blood?

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3 to 4 g

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What percentage of Caucasians have homozygous C282Y ?

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1 out of 150 people

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How common is the HFE gene mutation in the general population of Caucasians?

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6%

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Which enzyme mutations have been implicated in the rare variants of hereditary hemochromatosis?

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Ferroportin Hemojuvilin Hepcidin and ceruloplasmin

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What should the target ferritin (serum) be when phlebotomy is initiated ?

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200 ug/L

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What is the most common hemochromatosis mutation ?

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HFE C282Y

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Which ethnic group has the highest penetrance of hereditary hemochromatosis?

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Caucasians

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Do men or women with homozygous C282Y mutations tend to have more normal ferritin levels?

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Women, 50% versus men, 20%

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What percent of men with hemochromatosis will develop a liver associated complication?

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5%

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How many mL blood should be phlebotomized at first diagnosis of hemochromatosis ?

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500mL

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Should serum ferritin or transferrin saturation be used as an end-point for phlebotomy ?

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Ferritin

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What procedure is available for hemochromatosis patients that cannot tolerate phlebotomy ?

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Erythrocytapheresis

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