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An inherited disorder with splenomegaly, cytopenias, and vision loss

✍ Scribed by Srinivas K. Tantravahi; Lloyd B. Williams; Kathleen B. Digre; Donnell J. Creel; Kristi J. Smock; Margaret M. DeAngelis; Frederic C. Clayton; Albert T. Vitale; George M. Rodgers

Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 560 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34437

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Two siblings were identified with severe hypoproliferative mlcrocytlc anemia and Iron malabsorption, In the absence of any gastrointestinal disorder or blood loss. These children had severe mlcrocytosls (MCV 48 fl, hemoglobin 7.5 gldl) with decreased serum iron, elevated serum TIBC, and decreased se