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Diamond-Blackfan anemia 18(DBA18)

MedGen UID:
1681154
Concept ID:
C5193020
Disease or Syndrome
Synonym: DBA18
 
Gene (location): RPL18 (19q13.33)
 
Monarch Initiative: MONDO:0032668
OMIM®: 618310

Disease characteristics

Excerpted from the GeneReview: Diamond-Blackfan Anemia
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]
Authors:
Colin Sieff   view full author information

Clinical features

From HPO
Erythroid hypoplasia
MedGen UID:
488912
Concept ID:
C0542035
Disease or Syndrome
Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Granulocytic hypoplasia
MedGen UID:
488976
Concept ID:
C1534864
Finding
Decreased number of granulocyte precursors in the bone marrow.
Steroid-responsive anemia
MedGen UID:
1679264
Concept ID:
C5194784
Disease or Syndrome
Amelioration of anemia upon treatment with a steroid medication.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.

Recent clinical studies

Etiology

Wan Y, Gong X, Cheng S, Yin Z, Gao Y, Li J, Zong S, Zhang Y, Chen Y, Zheng R, Zhu X
J Pediatr 2022 Jan;240:177-185. Epub 2021 Sep 17 doi: 10.1016/j.jpeds.2021.09.015. PMID: 34543620
Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM
Am J Hematol 2021 Nov 1;96(11):1450-1460. Epub 2021 Aug 27 doi: 10.1002/ajh.26321. PMID: 34390506
Miano M, Eikema DJ, de la Fuente J, Bosman P, Ghavamzadeh A, Smiers F, Sengeløv H, Yesilipek A, Formankova R, Bader P, Díaz Pérez MÁ, Bertrand Y, Niemeyer C, Diallo S, Ansari M, Bykova TA, Faraci M, Bonanomi S, Gozdzik J, Satti TM, Bodova I, Wölfl M, Rocha VG, Mellgren K, Rascon J, Holter W, Lange A, Meisel R, Beguin Y, Mozo Y, Kriván G, Sirvent A, Bruno B, Dalle JH, Onofrillo D, Giardino S, Risitano AM, de Latour RP, Dufour C
Transplant Cell Ther 2021 Mar;27(3):274.e1-274.e5. Epub 2020 Dec 25 doi: 10.1016/j.jtct.2020.12.024. PMID: 33781541
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
Aspesi A, Borsotti C, Follenzi A
Curr Gene Ther 2018;18(6):327-335. doi: 10.2174/1566523218666181109124538. PMID: 30411682Free PMC Article

Diagnosis

Wakamatsu M, Muramatsu H, Sato H, Ishikawa M, Konno R, Nakajima D, Hamada M, Okuno Y, Kawashima Y, Hama A, Ito M, Iwafuchi H, Takahashi Y, Ohara O
Leukemia 2024 Jun;38(6):1256-1265. Epub 2024 May 13 doi: 10.1038/s41375-024-02263-1. PMID: 38740980Free PMC Article
Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM
Am J Hematol 2021 Nov 1;96(11):1450-1460. Epub 2021 Aug 27 doi: 10.1002/ajh.26321. PMID: 34390506
Darrigo LG Junior, Loth G, Kuwahara C, Vieira A, Colturato V, Rodrigues AL, Arcuri L, Fernandes J, Macedo A, Tavares R, Gomes A, Ribeiro L, Seber A, Zecchin V, de Souza M, Calixto R, Pasquini R, Flowers M, Rocha V, Bonfim C
Eur J Haematol 2020 Oct;105(4):426-433. Epub 2020 Jul 2 doi: 10.1111/ejh.13463. PMID: 32525237
Utsugisawa T, Uchiyama T, Toki T, Ogura H, Aoki T, Hamaguchi I, Ishiguro A, Ohara A, Kojima S, Ohga S, Ito E, Kanno H
Blood Cells Mol Dis 2016 Jul;59:31-6. Epub 2016 Apr 11 doi: 10.1016/j.bcmd.2016.03.007. PMID: 27282564
Rijhsinghani A, Wiechert RJ
Obstet Gynecol 1994 May;83(5 Pt 2):827-9. PMID: 8159364

Therapy

Duncan BB, Lotter JL, Superata J, Barranta ME, Machado T, Darden I, Venugopal S, Wu CO, Abkowitz JL, Dunbar CE, Young DJ
Br J Haematol 2024 May;204(5):2077-2085. Epub 2024 Mar 10 doi: 10.1111/bjh.19357. PMID: 38462764Free PMC Article
Wan Y, Gong X, Cheng S, Yin Z, Gao Y, Li J, Zong S, Zhang Y, Chen Y, Zheng R, Zhu X
J Pediatr 2022 Jan;240:177-185. Epub 2021 Sep 17 doi: 10.1016/j.jpeds.2021.09.015. PMID: 34543620
Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Güngör T, Gruhn B, Hainmann I, Kapp F, Lang P, Müller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH
Blood Adv 2020 Apr 28;4(8):1760-1769. doi: 10.1182/bloodadvances.2019001210. PMID: 32343795Free PMC Article
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
Aspesi A, Borsotti C, Follenzi A
Curr Gene Ther 2018;18(6):327-335. doi: 10.2174/1566523218666181109124538. PMID: 30411682Free PMC Article

Prognosis

van Dooijeweert B, Broeks MH, van Beers EJ, Verhoeven-Duif NM, van Solinge WW, Nieuwenhuis EES, Jans JJ, van Wijk R, Bartels M
Br J Haematol 2021 Jun;193(6):1185-1193. Epub 2021 May 17 doi: 10.1111/bjh.17524. PMID: 33997957Free PMC Article
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
Dolezal JM, Dash AP, Prochownik EV
BMC Cancer 2018 Mar 12;18(1):275. doi: 10.1186/s12885-018-4178-z. PMID: 29530001Free PMC Article
Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J
PLoS One 2009 Jul 9;4(7):e6172. doi: 10.1371/journal.pone.0006172. PMID: 19587786Free PMC Article
Gillio AP, Faulkner LB, Alter BP, Reilly L, Klafter R, Heller G, Young DC, Lipton JM, Moore MA, O'Reilly RJ
Stem Cells 1993 Jul;11 Suppl 2:123-30. doi: 10.1002/stem.5530110820. PMID: 7691318

Clinical prediction guides

van Dooijeweert B, Kia SK, Dahl N, Fenneteau O, Leguit R, Nieuwenhuis E, van Solinge W, van Wijk R, Da Costa L, Bartels M
Genes (Basel) 2022 Feb 28;13(3) doi: 10.3390/genes13030447. PMID: 35328001Free PMC Article
Wan Y, Gong X, Cheng S, Yin Z, Gao Y, Li J, Zong S, Zhang Y, Chen Y, Zheng R, Zhu X
J Pediatr 2022 Jan;240:177-185. Epub 2021 Sep 17 doi: 10.1016/j.jpeds.2021.09.015. PMID: 34543620
Darrigo LG Junior, Loth G, Kuwahara C, Vieira A, Colturato V, Rodrigues AL, Arcuri L, Fernandes J, Macedo A, Tavares R, Gomes A, Ribeiro L, Seber A, Zecchin V, de Souza M, Calixto R, Pasquini R, Flowers M, Rocha V, Bonfim C
Eur J Haematol 2020 Oct;105(4):426-433. Epub 2020 Jul 2 doi: 10.1111/ejh.13463. PMID: 32525237
Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J
PLoS One 2009 Jul 9;4(7):e6172. doi: 10.1371/journal.pone.0006172. PMID: 19587786Free PMC Article
Roy V, Pérez WS, Eapen M, Marsh JC, Pasquini M, Pasquini R, Mustafa MM, Bredeson CN; Non-Malignant Marrow Disorders Working Committee of the International Bone Marrow Transplant Registry
Biol Blood Marrow Transplant 2005 Aug;11(8):600-8. doi: 10.1016/j.bbmt.2005.05.005. PMID: 16041310

Recent systematic reviews

Bollig C, Schell LK, Rücker G, Allert R, Motschall E, Niemeyer CM, Bassler D, Meerpohl JJ
Cochrane Database Syst Rev 2017 Aug 15;8(8):CD007476. doi: 10.1002/14651858.CD007476.pub3. PMID: 28809446Free PMC Article

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