Monday, December 27, 2010

A Diamond is Forever

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?


sid said...

Diamond Blackfan Syndrome.... The name was a give away....:)

Anonymous said...

Sounds like Diamond Blackfan Anemia, an inherited ribosomopathy.

Crispin said...

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!

Marianne DiNapoli said...

Hereditary Persistence of Fetal Hemoglobin?

Craig Chen said...

yes diamond-blackfan!

A Diamond is Forever

This is Diamond-Blackfan anemia.

Source: UpToDate.