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| ==Historical Perspective== | | ==Historical Perspective== |
| Diamond and [[Kenneth Blackfan|Blackfan]] described congenital [[hypoplastic]] anemia in 1938.<ref>{{cite journal | author=Diamond LK, Blackfan, KD | title=Hypoplastic anemia. | journal=Am. J. Dis. Child. | year=1938 | pages=464-467 | volume=56 }} </ref>
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| *In 1951, responsiveness to corticosteroids was reported.
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| *In 1961, Diamond and colleagues presented [[longitudinal]] data on 30 patients and noted an association with skeletal abnormalities. <ref>{{cite journal | author=Diamond LK, Allen DW, Magill FB | title= Congenital (erythroid) hypoplastic anemia: a 25 year study. | journal=Am. J. Dis. Child. | year=1961 | pages=403-415 | volume=102 | id=PMID 13722603}}
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| </ref>
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| *In 1997 a region on chromosome 19 was determined to carry a gene mutated in DBA. <ref>{{cite journal | author= 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 | title= Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. | journal=Nat. Genet. | year=1997 | pages=368-71 | volume=16 | issue=4 | id=PMID 9241274}}</ref><ref>{{cite journal | author= Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N | title= Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. | journal=J. Med. Genet. | year=1997 | pages=779-82 | volume=34 | issue=9 | id=PMID 9321770}}</ref>
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| *In 1999, mutations in the [[Ribosome|ribosomal]] protein S19 gene (RPS19) were found to be associated with disease in some of the patients.<ref>{{cite journal | author= 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 | title= The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. | journal=Nat. Genet. | year=1999 | pages=168-75 | volume=21 | issue=2 | id=PMID 9988267}}</ref>
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| *In 2001, it was determined that a second DBA gene lies in a region of chromosome 8.<ref>{{cite journal | author=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 | title= Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. | journal=Blood | year=2001 | pages=2145-50 | volume=97 | issue=7 | id=PMID 11264183}}</ref>
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| *In 2007, Furthermore mutations in large ribosomal subunit-associated proteins rpl5, rpl11, and rpl35a, have been described. <ref name="pmid18535205">{{cite journal |vauthors=Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ |title=Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia |journal=Blood |volume=112 |issue=5 |pages=1582–92 |date=September 2008 |pmid=18535205 |pmc=2518874 |doi=10.1182/blood-2008-02-140012 |url=}}</ref>
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| *In 2010, 10 additional DBA genes are identified.
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| *Non-RP gene, GATA1, was identified in 2012.<ref name="pmid24952648">{{cite journal |vauthors=Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG |title=Altered translation of GATA1 in Diamond-Blackfan anemia |journal=Nat. Med. |volume=20 |issue=7 |pages=748–53 |date=July 2014 |pmid=24952648 |pmc=4087046 |doi=10.1038/nm.3557 |url=}}</ref>
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| * Researchers still wants to know why steroids often work in DBA, find more mutations, and address some questions about Diamond-Blackfan anemia.<ref name="pmid30503522">{{cite journal |vauthors=Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT |title=The Genetic Landscape of Diamond-Blackfan Anemia |journal=Am. J. Hum. Genet. |volume=103 |issue=6 |pages=930–947 |date=December 2018 |pmid=30503522 |pmc=6288280 |doi=10.1016/j.ajhg.2018.10.027 |url=}}</ref>
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| ==Classification== | | ==Classification== |