Organ Pathology - Handout 4 - Red Blood Cell Disorders

1. A Mediterranean girl has been advised to stay away from fava beans. Which sex-linked disorder must one of her parents have?

G6PDH deficiency

Incontinentia pigmenti

Anemia of Endocrine Failure

Hemophilia

G6PDH deficiency is a sex-linked disorder that primarily affects males. It is caused by a mutation in the gene responsible for producing the enzyme glucose-6-phosphate dehydrogenase (G6PDH). This enzyme plays a crucial role in protecting red blood cells from oxidative damage. Fava beans contain a substance called vicine, which can trigger a reaction in individuals with G6PDH deficiency, leading to the destruction of red blood cells and the development of anemia. Since the Mediterranean girl has been advised to stay away from fava beans, it suggests that one of her parents must have G6PDH deficiency.

Explanation

G6PDH deficiency is a sex-linked disorder that primarily affects males. It is caused by a mutation in the gene responsible for producing the enzyme glucose-6-phosphate dehydrogenase (G6PDH). This enzyme plays a crucial role in protecting red blood cells from oxidative damage. Fava beans contain a substance called vicine, which can trigger a reaction in individuals with G6PDH deficiency, leading to the destruction of red blood cells and the development of anemia. Since the Mediterranean girl has been advised to stay away from fava beans, it suggests that one of her parents must have G6PDH deficiency.

2. Your patient is diagnosed with megaloblastic anemia, they are most likely deficient in what? (Select 2)

Vit. B6

Vit. B12

Folate

Vit. C

The patient's diagnosis of megaloblastic anemia suggests a deficiency in two nutrients: folate and vitamin B12. Megaloblastic anemia is characterized by the production of abnormally large red blood cells, which are unable to function properly. Both folate and vitamin B12 are essential for the production of healthy red blood cells. Folate is necessary for DNA synthesis and cell division, while vitamin B12 is required for the maturation of red blood cells. Deficiencies in either of these nutrients can lead to the development of megaloblastic anemia.

Explanation

The patient's diagnosis of megaloblastic anemia suggests a deficiency in two nutrients: folate and vitamin B12. Megaloblastic anemia is characterized by the production of abnormally large red blood cells, which are unable to function properly. Both folate and vitamin B12 are essential for the production of healthy red blood cells. Folate is necessary for DNA synthesis and cell division, while vitamin B12 is required for the maturation of red blood cells. Deficiencies in either of these nutrients can lead to the development of megaloblastic anemia.

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3. Excessive cytokine release is characteristic of which type of anemia?

Macrocytic

Anemia of chronic disease

Iron deficiency anemia

Megaloblastic anemia

Excessive cytokine release is characteristic of anemia of chronic disease. Anemia of chronic disease is a type of anemia that occurs as a result of chronic inflammation or underlying medical conditions such as autoimmune diseases, chronic infections, or malignancies. In these conditions, there is an overproduction of cytokines, which are signaling molecules that regulate the immune response. The excessive cytokine release leads to a disruption in the normal production of red blood cells, resulting in anemia.

Explanation

Excessive cytokine release is characteristic of anemia of chronic disease. Anemia of chronic disease is a type of anemia that occurs as a result of chronic inflammation or underlying medical conditions such as autoimmune diseases, chronic infections, or malignancies. In these conditions, there is an overproduction of cytokines, which are signaling molecules that regulate the immune response. The excessive cytokine release leads to a disruption in the normal production of red blood cells, resulting in anemia.

4. A normal male hematocrit number would be

0.36

150 g/L

0.45

120 g/L

A normal male hematocrit number refers to the proportion of red blood cells in the total volume of blood. A hematocrit of 0.45 means that 45% of the blood volume is made up of red blood cells. This value falls within the normal range for males, indicating a healthy level of red blood cells in the bloodstream.

Explanation

A normal male hematocrit number refers to the proportion of red blood cells in the total volume of blood. A hematocrit of 0.45 means that 45% of the blood volume is made up of red blood cells. This value falls within the normal range for males, indicating a healthy level of red blood cells in the bloodstream.

5. Which one of these is the greatest contributor to End Stage Renal Disease?

High Cholesterol

Hypertension

Diabetic Retinopathy

Diabetic Nephropathy

Hypertension is second most.

Explanation

Hypertension is second most.

6. Iron deficiency anemia will show which? (Select 2)

Low iron

High transferrin

High ferritin

Low transferrin

Low iron for obvious reasons. High transferrin to make as much iron available as possible.

Explanation

Low iron for obvious reasons. High transferrin to make as much iron available as possible.

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7. Which of the following is not true regarding aplastic anemia?

There will often be increased levels of circulating blood EPO

There will be decreased Iron

The problem is primarily attributed to chronic renal failure

It is treated with a bone marrow transplant

It is a stem cell disorder

Its pathogenesis is rooted in bone marrow failure

Explanation

Its pathogenesis is rooted in bone marrow failure

8. For an anemia of a chronic disease, what would be the most appropriate expected MCV finding?

90 fl

>100 fl

Microcytic anemia MCF

Chronic disease is a normocytic anemia where MCV would be between 80-100 fl

Explanation

Chronic disease is a normocytic anemia where MCV would be between 80-100 fl

9. One lady has Rheumatoid Arthritis and another is encompassed by toxins and radiation everyday. They both developed the same type of anemia (with very bad prognosis) because of these things. Which type of anemia is it?

Thalassemia

Aplastic Anemia

Polycythemia

Microcytic anemia

Aplastic anemia can be caused by autoimmune diseases, toxins, cancer, chemotherapy, drugs and antibiotics.

Explanation

Aplastic anemia can be caused by autoimmune diseases, toxins, cancer, chemotherapy, drugs and antibiotics.