This tutorial will take you through analyzing a patient with anemia, what can cause it and what problems it causes for the patient.
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Mrs. G is a 37-year-old woman with two children. She is not currently pregnant or nursing. She's come to the doctor with a complaint of being generally 'worn down,' tired and sore all the time, aching bones, and just not able to keep up with her life!
She has normal weight, blood pressure, and temperature. Her heart rate is a little rapid, and so is her respiration rate. She says she gets out of breath a lot. She has never smoked and says she hasn't had any recent respiratory illnesses. Her skin turgor is normal but her skin is pale and slightly yellowish. Her liver is normal but her spleen appears slightly enlarged.
The doctor asks a lot of questions about her family history. She is from a Greek family and some diseases do appear in their history. In particular, her great-aunt had jaundice and her grandmother suffered from bone problems. The causes of these were never diagnosed. Her mother also complained of tiredness after her children were born, and the family understanding was that some women just never 'bounced back.' But her sister is doing just fine, so Mrs. G feels it is unfair that it should hit her.
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The doctor orders a complete blood count, Vit B12, folic acid and ferritin assays, fecal blood test, and bilirubin assay.
While we wait for the lab results, let's think about what they could tell us.
Ferritin is an assay for blood iron. If Mrs. G had low ferritin, how could that make her feel weak and miserable?
What about fecal blood?
What about bilirubin?
Page 3The doctor's tests are checking for three major causes of anemia.
Let's look at the first possibility. Remember how red blood cells are made?
Mrs. G's lab results have come back and they show that her ferritin, Vitamin B12, and folic acid are all within normal levels. Her urine is normal, and she doesn't have any blood in her stool or any other sign of bleeding. Her bilirubin level is elevated, however.
The complete blood count shows many small, misshapen red blood cells. Many of them are reticulocytes instead of adult erythrocytes, some of them have lumps inside them, and some still have nuclei.
What does this make you think about the cause of her anemia?It probably is caused by bone marrow failure to make enough red blood cells
The lab tests pretty much ruled out the first two possible causes of her anemia, and gave evidence for the third cause - excessive red blood cell destruction, causing high bilirubin levels.
Mrs. G is breaking down her red blood cells too fast. But what could make her do this?
The doctor is concerned about those lumps in the red blood cells. So they run further tests to see just what those lumps are made of.
They turn out to be hemoglobin - but abnormal hemoglobin. Instead of being made of two alpha chains and two beta chains, this is made up of four alpha chains.
What does that signify? Let's look at normal adult hemoglobin. It's made up of four protein chains, each one holding a heme group that holds an iron ion. Two of those four protein chains are identical alpha chains, and two are identical beta chains.
Now let's look at the abnormal hemoglobin from Mrs. G's cells. It only contains alpha chains - four of them.
Inside the red blood cell, normal hemoglobin disperses evenly. But abnormal hemoglobin often comes together into lumps.
These lumps are generally known as Heinz bodies, and they cause the spleen to perceive the red blood cells as abnormal and destroy them. So Mrs. G's body is destroying her red blood cells too quickly.
But why would she have this abnormal hemoglobin in the first place?
The protein chains in hemoglobin, like all proteins, are coded for by genes. Humans normally have four copies of the gene for alpha chains, and two copies of the gene for beta chains. Therefore, we are able to make both alpha and beta chains, and our hemoglobin molecules have two alpha chains and two beta chains.
But a genetic test on Mrs. G reveals that she doesn't have any active genes for the beta chains! All she can make is alpha chains, so that's all that is in her hemoglobin.
This disease is called Beta Thalassemia major or Cooley's anemia. What other terms might you apply to Mrs. G's condition?
Mrs. G complained of aching bones. What do you think might cause that problem?
The medical students are discussing Mrs. G's case. One student says she will need to have constant transfusions, but another student disagrees.
What do you think about these suggestions? Come up with your own judgment about them, and then click on them to check your answers.
You've now finished the tutorial on Mrs. G's inherited hemolytic anemia. What are some complications you would worry about in this patient? How do you think an alpha-thalassemia would be different?
1 Advani, P. (2017, November 29). Beta Thalassemia Treatment & Management: Approach Considerations, Surgical Treatment, Investigational Therapy.
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