Iron overload due to X-linked sideroblastic anemia in an African American man [4]

American Journal of Medicine

Volumn 116, Issue 7, 2004, Pages 501-502

  Collins, Timothy S ^a   Arcasoy, Murat O ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; AMINOTRANSFERASE; DNA; FERRITIN; HEMOGLOBIN; IRON; LEAD; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; TRANSFERRIN;

ADULT; AFRICAN AMERICAN; ALPHA THALASSEMIA; BINDING SITE; BONE MARROW EXAMINATION; CASE REPORT; DISEASE ASSOCIATION; DNA DETERMINATION; ERYTHROPOIESIS; EXON; FAMILY HISTORY; GENETIC ANALYSIS; HEMATOCRIT; HEMOCHROMATOSIS; HEMOGLOBIN DETERMINATION; HUMAN; IRON BLOOD LEVEL; IRON OVERLOAD; LEAD BLOOD LEVEL; LETTER; LIVER BIOPSY; LIVER CELL; LIVER CIRRHOSIS; LIVER FIBROSIS; LIVER LEVEL; MALE; MICROCYTOSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHLEBOTOMY; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RETICULOCYTE COUNT; X LINKED SIDEROBLASTIC ANEMIA;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; ANEMIA, SIDEROBLASTIC; BIOLOGICAL MARKERS; HUMANS; IRON; IRON OVERLOAD; LIVER; MALE;

EID: 1642406845     PISSN: 00029343     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.amjmed.2003.10.032     Document Type: Letter

References (10)

1. Gordeuk V.R. African iron overload. Semin Hematol. 39:2002;263-269.
2. Wurapa R.K., Gordeuk V.R., Brittenham G.M., et al. Primary iron overload in African Americans. Am J Med. 101:1996;9-18.
3. Barton J.C., Edwards C.Q., Bertoli L.F., et al. Iron overload in African Americans. Am J Med. 99:1995;616-623.
4. Cotter P.D., May A., Li L., et al. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood. 93:1999;1757-1769.
5. Bottomley S.S., May B.K., Cox T.C., et al. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. J Bioenerg Biomembr. 27:1995;161-168.
6. Cooley T.B. A severe type of hereditary anemia with elliptocytosis. Interesting sequence of splenectomy. Am J Med Sci. 209:1945;561.
7. Cotter P.D., Baumann M., Bishop D.F. Enzymatic defect in "X-linked" sideroblastic anemia molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci U S A. 89:1992;4028-4032.
8. Fleming M.D. The genetics of inherited sideroblastic anemias. Semin Hematol. 39:2002;270-281.
9. Brown K.E., Khan C.M., Zimmerman M.B., Brunt E.M. Hepatic iron overload in blacks and whites a comparative autopsy study. Am J Gastroenterol. 98:2003;1594-1598.
10. Phatak P.D., Ryan D.H., Cappuccio J., et al. Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis. 29:2002;41-47.