Question 1

What is the most probable diagnosis based on these clinical findings and patient history?

Accepted Answer

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Question 2

Explain the difference in the chemical composition of hemosiderin and ferritin.

Accepted Answer

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Question 3

The most common form of hereditary hemochromatosis is due to which gene mutation?

Accepted Answer

The most common form of hereditary hemochromatosis is due to mutations in the HFE gene. The HFE gene encodes a protein that regulates iron absorption in the body. Mutations in this gene can lead to excessive iron absorption and accumulation in various organs, leading to tissue damage and disease.

Question 4

How is sideroblastic anemia confirmed by laboratory analysis? Explain your answer.

Accepted Answer

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Question 5

Alcoholics have an increased incidence of sideroblastic anemia due to which of the following?

Accepted Answer

Alcoholics have an increased incidence of sideroblastic anemia due to abnormal activity of enzymes of heme synthesis. This is because chronic alcohol consumption can damage the liver, which is responsible for producing heme. Additionally, some studies suggest that alcohol may directly interfere with the activity of the enzymes involved in heme synthesis, leading to decreased heme production and consequently, sideroblastic anemia.

Question 6

Iron overload exists when ferritin levels are higher than:

Accepted Answer

Iron overload is typically considered when ferritin levels exceed 200 ng/mL, as this indicates excess iron storage in the body.

Question 7

What reflex laboratory tests would be helpful to identify the cause of this anemia?

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Question 8

The patient was found to have normal serum iron studies.What other reflex test(s) should be done?

Accepted Answer

Blood lead level should be checked as lead poisoning can cause anemia with normal iron studies.

Question 9

Explain how lead inhibits heme synthesis.

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Question 10

Differentiate primary and secondary hemochromatosis?

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Question 11

Hypochromic, microcytic anemia is found in this stage of iron deficiency:

Accepted Answer

Hypochromic, microcytic anemia is a late stage of iron deficiency, which occurs in stage 3 when there is a significant decrease in stored iron and hemoglobin synthesis is impaired.

Question 12

A defect in the HFE gene would cause which of the following to occur?

Accepted Answer

A defect in the HFE gene is associated with hereditary hemochromatosis, a condition characterized by increased iron absorption in the intestines.

Question 13

Explain the absorption and assimilation of non-heme iron into hemoglobin in the RBC.

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Question 14

Which of the following is NOT characteristic of iron deficiency anemia?

Accepted Answer

Decreased ZPP (zinc protoporphyrin) is actually a characteristic of iron deficiency anemia. The other choices are all consistent with iron deficiency anemia: decreased serum iron, increased TIBC (total iron-binding capacity), and decreased serum ferritin.

Question 15

A bone marrow aspirate is performed on a patient with sideroblastic anemia.The smear is stained with Prussian blue iron stain.What would be the expected findings in this patient? Iron stores:

Accepted Answer

Sideroblastic anemia is characterized by abnormal heme synthesis which results in excess iron deposition and therefore, increased iron stores in the bone marrow. Thus, the expected finding after staining with Prussian blue iron stain in a patient with sideroblastic anemia would be increased iron stores as compared with normal control.

Question 16

Erythropoietic porphyrias are associated with:

Accepted Answer

Erythropoietic porphyrias are caused by abnormalities in enzymes involved in the heme biosynthetic pathway, leading to the accumulation of porphyrins or their precursors.

Quiz 9: Anemias of Disordered Iron Metabolism and Heme Synthesis