Diamond-Blackfan Anemia

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 macrocytic.

    01:57 Let's move on.

    About the Lecture

    The lecture Diamond-Blackfan Anemia 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

     Carlo Raj, MD

    Carlo Raj, MD

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    By Giorgi M. on 11. August 2021 for Diamond-Blackfan Anemia

    quick explanation of what pure red cell aplasia is would also be great