Diamond-Blackfan anemia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
Diamond and Blackfan described congenital hypoplastic anemia in 1938.[1] In 1961, Diamond and colleagues presented longitudinal data on 30 patients and noted an association with skeletal abnormalities. [2] In 1997 a region on chromosome 19 was determined to carry a gene mutated in DBA. [3][4] In 1999, mutations in the ribosomal protein S19 gene (RPS19) were found to be associated with disease in 42 of 172 DBA patients.[5] In 2001, it was determined that a second DBA gene lies in a region of chromosome 8 although evidence for further genetic heterogeneity was uncovered.[6]
References
- ↑ Diamond LK, Blackfan, KD (1938). "Hypoplastic anemia". Am. J. Dis. Child. 56: 464–467.
- ↑ Diamond LK, Allen DW, Magill FB (1961). "Congenital (erythroid) hypoplastic anemia: a 25 year study". Am. J. Dis. Child. 102: 403–415. PMID 13722603.
- ↑ Gustavsson P, Willing TN, van Haeringen A, Tchernia G, Dianzani I, Donner M, Elinder G, Henter JI, Nilsson PG, Gordon L, Skeppner G, van't Veer-Korthof L, Kreuger A, Dahl N (1997). "Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb". Nat. Genet. 16 (4): 368–71. PMID 9241274.
- ↑ Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N (1997). "Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation". J. Med. Genet. 34 (9): 779–82. PMID 9321770.
- ↑ Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N (1999). "The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia". Nat. Genet. 21 (2): 168–75. PMID 9988267.
- ↑ Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA (2001). "Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease". Blood. 97 (7): 2145–50. PMID 11264183.