Happy New Year!
A six month old baby is referred to you because of profound anemia of 4.5 g/dL. He has a snub nose, wide set eyes, a thick upper lip, and an intelligent expression. Looking at the records, you note a progressive normochromic and macrocytic anemia. The WBC and platelet counts are normal. The patient's reticulocytes are markedly decreased. There is increased Hgb F. The bone marrow shows normal cellularity but very few erythrocyte precursors. Red cell adenosine deaminase activity is increased. There is a positive family history for this disease.
Challenge: What's going on?
Subscribe to:
Post Comments (Atom)
Posts
5 comments:
Diamond Blackfan Syndrome.... The name was a give away....:)
Sounds like Diamond Blackfan Anemia, an inherited ribosomopathy.
Diamond-Blackfan anaemia
Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases.
Red-cell adenosine deaminase (ADA) activity in children with Diamond-Blackfan anaemia is significantly increased (1.91 +/- 0.90 U/g Hb) compared to that seen in transient erythroblastopenia of childhood (0.80 +/- 0.16 U/g Hb) or normal individuals (0.61 +/- 0.13 U/g).
Thanx Craig and wishing you too a very prosperous New Year 2011!
Hereditary Persistence of Fetal Hemoglobin?
yes diamond-blackfan!
-
A Diamond is Forever
This is Diamond-Blackfan anemia.
Source: UpToDate.
Post a Comment