Diamond-Blackfan Anemia

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.