JAMA Clinical Challenge

Patient With Anemia and Blue Sclerae

Patient at presentation with blue sclerae..

Javier Munoz, MD
Amr Hanbali, MD
A 60-year-old man with a history of multiple fractures after minor trauma presents for evaluation of anemia with a hemoglobin level of approximately 9 g/dL. Other medical problems include chronic hypertension and worsening chronic kidney disease (CKD). His family history is remarkable for short stature and dental problems. Physical examination reveals a short male with blue sclerae ( Figure). Iron levels are normal and ferritin is elevated. A kidney biopsy performed for renal dysfunction progressing more rapidly than expected reveals glomerulosclerosis compatible with hypertensive nephropathy. A bone marrow biopsy is negative for malignancy and shows elevated iron levels.

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Author Affiliations: Dr Munoz ( javier.munoz{at}me.com ) and Dr Hanbali are affiliated with the Department of Hematology/Oncology, Henry Ford Hospital, Detroit, Michigan.