Diamond-Blackfan anemia overview: Difference between revisions
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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> | |||
*In 1951, responsiveness to corticosteroids was reported. | |||
*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}} | |||
</ref> | |||
*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> | |||
*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> | |||
*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> | |||
*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> | |||
*In 2010, 10 additional DBA genes are identified. | |||
*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> | |||
* 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> | |||
==Classification== | ==Classification== | ||
Revision as of 04:49, 7 August 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy.The classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets. About half of the affected patients have congenital malformations, and growth retardation in 30% of affected individuals. The symptoms and physical findings associated with DBA vary greatly from person to person.The hematologic complications occur in 90% of affected individuals during the first year of life.[1]
Historical Perspective
Diamond and Blackfan described congenital hypoplastic anemia in 1938.[2]
- In 1951, responsiveness to corticosteroids was reported.
- In 1961, Diamond and colleagues presented longitudinal data on 30 patients and noted an association with skeletal abnormalities. [3]
- In 1997 a region on chromosome 19 was determined to carry a gene mutated in DBA. [4][5]
- In 1999, mutations in the ribosomal protein S19 gene (RPS19) were found to be associated with disease in some of the patients.[6]
- In 2001, it was determined that a second DBA gene lies in a region of chromosome 8.[7]
- In 2007, Furthermore mutations in large ribosomal subunit-associated proteins rpl5, rpl11, and rpl35a, have been described. [8]
- In 2010, 10 additional DBA genes are identified.
- Non-RP gene, GATA1, was identified in 2012.[9]
- Researchers still wants to know why steroids often work in DBA, find more mutations, and address some questions about Diamond-Blackfan anemia.[10]
Classification
Pathophysiology
Causes
Differentiating Xyz from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Interventions
Surgery
Primary Prevention
Secondary Prevention
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A. PMID 20301295. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ 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.
- ↑ 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 (September 2008). "Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia". Blood. 112 (5): 1582–92. doi:10.1182/blood-2008-02-140012. PMC 2518874. PMID 18535205.
- ↑ 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 (July 2014). "Altered translation of GATA1 in Diamond-Blackfan anemia". Nat. Med. 20 (7): 748–53. doi:10.1038/nm.3557. PMC 4087046. PMID 24952648.
- ↑ 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 (December 2018). "The Genetic Landscape of Diamond-Blackfan Anemia". Am. J. Hum. Genet. 103 (6): 930–947. doi:10.1016/j.ajhg.2018.10.027. PMC 6288280. PMID 30503522.