Timothy S. Collins, MD, Murat O. Arcasoy, MD

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Presentation transcript:

Iron overload due to X-linked sideroblastic anemia in an African American man Timothy S. Collins, MD, Murat O. Arcasoy, MD The American Journal of Medicine Volume 116, Issue 7, Pages 501-502 (April 2004) DOI: 10.1016/j.amjmed.2003.10.032

Figure A. Sequence analysis of ALAS2 gene. Fluorescent dideoxy sequence analysis of exon 9 identified a point mutation (arrowhead) in codon 452 (CGC→AGC) predicting an arginine to serine substitution (R452S), a previously reported mutation (5). B. Hematologic response to pyridoxine and phlebotomy. Three months following the initiation of therapy (black bar), the hemoglobin increased from 9 to 12 g/dL and mean corpuscular volume (MCV) increased from 58 to 65 fL. The American Journal of Medicine 2004 116, 501-502DOI: (10.1016/j.amjmed.2003.10.032)