Molecular characterization of a case of atransferrinemia

Blood

Volumn 96, Issue 13, 2000, Pages 4071-4074

  Beutler, Ernest ^a   Gelbart, Terri ^b   Lee, Pauline ^b   Trevino, Reneé ^b   Fernandez, Mark A ^b   Fairbanks, Virgil F ^b  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; IRON; TRANSFERRIN;

ADULT; AMENORRHEA; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; CASE REPORT; CHEMISTRY; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENETICS; HUMAN; HYPOTHYROIDISM; INTRON; IRON OVERLOAD; METABOLISM; MULTIMODALITY CANCER THERAPY; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; PHLEBOTOMY; PLASMA; RECURRENT DISEASE; UNITED STATES;

ADULT; AMENORRHEA; AMINO ACID SUBSTITUTION; ANEMIA; COMBINED MODALITY THERAPY; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FEMALE; GENE DUPLICATION; HUMANS; HYPOTHYROIDISM; ILLINOIS; INTRONS; IRON; IRON OVERLOAD; MUTAGENESIS, INSERTIONAL; OSTEOPOROSIS; PHLEBOTOMY; PLASMA; RECURRENCE; SEQUENCE DELETION; TRANSFERRIN;

EID: 0034672337     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.13.4071     Document Type: Article

References (25)

1. Lee PL, Ho NJ, Olson R, Beutler E. The effect of transferrin polymorphisms on iron metabolism. Blood Cells Mol. Dis. 1999;25:374-379.
2. Roychoudhury AK, Nel M. Human Polymorphic Genes. World Distribution. Oxford: Oxford University Press; 1999.
3. Heilmeyer L, Keller W, Vivell O, Betke K, Wōhler F, Keiderling W. Die kongenitale Atransferrinämie. Schweiz Med Wochenschr. 1961;91:1203.
4. Raja KB, Pountney DJ, Simpson RJ, Peters TJ. Importance of anemia and transferrin levels in the regulation of intestinal iron absorption in hypotransferrinemic mice. Blood. 1999;94:3185-3192.
5. Huggenvik JI, Craven CM, Idzerda RL, Bernstein S, Kaplan J, McKnight GS. A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. Blood. 1989;74:482-486.
6. Trenor CC, Campagna DR, Sellers VM, Andrews NC, Fleming MD. The molecular defect in hypotransferrinemic mice. Blood. 2000;96:1113-1118.
7. Goya N, Miyazaki S, Kodate S, Ushio B. A family of congenital atransferrinemia. Blood. 1972;40: 239-245.
8. Sakata T. A case of congenital atransferrinemia. Shonika Shinryo. 1969;32:1523.
9. Schwick H. Therapy of atransferrinemia with transferrin. J Clin Chem Clin Biochem. 1977; 16:73.
10. Olivia G, Dominici G, Latini P, Cozzolino G. Sindrome nefrosica atransferrinemica. Minerva Med. 1968;59:1297-1309.
11. Gaston-Morata JL, Rodriquez-Cuartero A, Urbano-Jimenez F. et al. Atransferrinemia secundaria a cirrosis hepática, hemocromatosis y sindrome nefrótico. Rev Esp Enferm Apar Dig. 1960;62:491.
12. Hitzig WH, Schmid M, Betke K, Rothchild M. Erythroleukāmie mil Hāmoglobinopathie und Eisenstoffwechselstōrung. Helv Paediatr Acta. 1960;15:203-222.
13. Westerhausen M, Meuret G. Transferrin-immune complex disease. Acta Haematol. 1977;57:96-101.
14. Escriva H, Pierce A, Coddeville B, et al. Rat mammary-gland transferrin: nucleotide sequence, phylogenetic analysis and glycan structure. Biochem J. 1995;307(Pt 1):47-55.
15. Banfield DK, Chow BK, Funk WD, et al. The nucleotide sequence of rabbit liver transferrin cDNA. Biochim Biophys Acta. 1991;1089:262-265.
16. Carpenter MA, Broad TE. The cDNA sequence of horse transferrin. Biochim Biophys Acta. 1993; 1173:230-232.
17. Baldwin GS, Weinstock J. Nucleotide sequence of porcine liver transferrin. Nucl Acids Res. 1988; 16:8720.
18. Raman A, Bhatia KL, Singh TP, Srinivasan A, Betzel C, Malik RC. Purification, crystallization, and x-ray diffraction studies of lactotransferrin from buffalo colostrum. Arch Biochem Biophys. 1992; 294:319-321.
19. Le Provost F, Nocart M, Guerin G, Martin P. Characterization of the goat lactoferrin cDNA: assignment of the relevant locus to bovine U12 synteny group. Biochem Biophys Res Commun. 1994; 203:1324-1332.
20. Cap J, Lehotská V, Mayerová A. Kongenitáina atransferinémia u 11-mesacného dietata. Cesk Pediatr. 1968;23:1020-1025.
21. Hromec A, Payer J Jr, Killinger Z, Rybar I, Rovensky J. Kongenitale Atransferrinǎmie. Dtsch Med Wochenschr. 1994;119:663-666.
22. Loperena L, Dorantes S, Medrano E, et.al. Atransferrinemia hereditaria. Bol Med Hosp Infant Mex. 1974;31:519.
23. Dorantes-Mesa S, Marquez JL. Valencia-Mayoral P. Iron overload in hereditary atransferremia [abstract]. Bol Med Hosp Infant Mex. 1986;43:99-101.
24. Walbaum R. Déficit congénital en transferrine. Lille Med. 1971;16:1122-1124.
25. Hamill RL, Woods JC, Cook BA. Congenital atransferrinemia: a case report and review of the literature. Am J Clin Pathol. 1991;96:215-218.