Friday, February 12, 2010

Bubbles

The blood smear above comes from a 10 year old presenting with jaundice. There is a positive family history of this disease. On physical exam, you note a large spleen. On labs, you note a severe anemia with a normal MCV and modest reticulocytosis along with an elevated serum bilirubin. An abdominal ultrasound shows cholelithiasis.

Challenge: What's the diagnosis?

Image is in the public domain.

4 comments:

tree said...

hereditary spherocytosis

Suheil said...

umm heriditary spherocytosis?

Anonymous said...

glucose-6-phosphate dehydrogenase "Favism"

Craig Chen said...

hereditary spherocytosis!
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Bubbles

Hereditary spherocytosis is a hemolytic anemia due to a gene mutation in the red cell membrane (most commonly ankyrin). It is categorized as mild (erythropoietin-compensated), moderate (described here), or severe (recessive). Bilirubin gallstones are common. MCHC is elevated, reflecting membrane loss and red cell dehydration and RDW is elevated. The diagnostic test is the osmotic fragility test. Splenectomy with vaccines against Pneumococcus, Meningococcus, and Haemophilus is the treatment for moderate to severe disease.

Sources: UpToDate; nlm.nih.gov.