Lectures

Diamond Blackfan Anemia (BMF)

by Carlo Raj, MD
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    00:01 So what is Diamond Blackfan syndrome? Well, Diamond Blackfan syndrome was discovered way back in 1938.

    00:08 Interesting in terms of history, but the bottomline is this.

    00:11 There is a failure of the bone marrow to function properly.

    00:14 That is the most important point.

    00:16 And what happens is the fact that either the bone marrow failure can be so bad in which it may result as aplastic anemia, thus it would be normocytic non-hemolytic.

    00:27 Or the RBCs are not properly what? Being synthesized and so therefore, you might have very, very, very primitive cells.

    00:36 So your erythroid progenitor cells are then going to form megaloblasts, okay? Fact, so be careful.

    00:44 Diamond Blackfan, bone marrow issue for sure either you’re going to form megaloblast or the bone marrow will be shut down.

    00:52 Now, in terms of what is happening here with the symptoms of your patient with Diamond Blackfan is what we'll walk through here.

    00:58 It’s congenital pure red blood cell aplasia.

    01:03 That's the point.

    01:03 So your trilineage, no.

    01:06 You won’t have this pancytopenia.

    01:09 So you won’t have issues with your neutrophils.

    01:12 You do not have your issues with your platelets.

    01:13 It’s more about your RBCs that you have problems with.

    01:16 It’s congenital hypoplastic anemia.

    01:19 Meaning to say the bone marrow is not working properly.

    01:22 And there is a subset of Diamond Blackfan syndrome.

    01:26 And it's a syndrome, I’m just going to put it here for you, just so that you have a little bit more information.

    01:33 Your focus, however, should be on DBA.

    01:35 Let’s move on.

    01:37 Don’t underestimate/overestimate.

    01:38 I have given just the right amount of information so that when you get a question, you can then address it confidently and not feel confused.

    01:47 Main thing is bone marrow issue, RBCs almost exclusively and it will be either aplastic or it will be under the category of megaloblastic.

    01:57 Let's move on.


    About the Lecture

    The lecture Diamond Blackfan Anemia (BMF) by Carlo Raj, MD is from the course Normocytic Anemia – Red Blood Cell Pathology (RBC).


    Included Quiz Questions

    1. Congenital
    2. Viral
    3. Fungal
    4. Idiopathic
    5. Bacterial

    Author of lecture Diamond Blackfan Anemia (BMF)

     Carlo Raj, MD

    Carlo Raj, MD


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