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Diamond-Blackfan anemia 9(DBA9)

MedGen UID:
412874
Concept ID:
C2750081
Disease or Syndrome
Synonyms: DBA9; RPS10-Related Diamond-Blackfan Anemia
 
Gene (location): RPS10 (6p21.31)
 
Monarch Initiative: MONDO:0013216
OMIM®: 613308

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

Additional description

From OMIM
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).  http://www.omim.org/entry/613308

Clinical features

From HPO
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Decreased circulating vitamin D concentration
MedGen UID:
12114
Concept ID:
C0042870
Disease or Syndrome
The concentration of vitamin D in the blood circulation is below the lower limit of normal.
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.

Professional guidelines

PubMed

Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, Caforio P, Pinto V, Pignataro P, Radhakrishnan K, Unal S, Tomaiuolo G, Forni GL, Iolascon A
Am J Hematol 2018 May;93(5):672-682. Epub 2018 Feb 24 doi: 10.1002/ajh.25058. PMID: 29396846
Dietz AC, Savage SA, Vlachos A, Mehta PA, Bresters D, Tolar J, Bonfim C, Dalle JH, de la Fuente J, Skinner R, Boulad F, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP
Biol Blood Marrow Transplant 2017 Sep;23(9):1422-1428. Epub 2017 May 19 doi: 10.1016/j.bbmt.2017.05.022. PMID: 28533057Free PMC Article

Curated

Vlachos A, Dahl N, Dianzani I, Lipton JM
Eur J Hum Genet 2011 May;19(5) Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.247. PMID: 21248735Free PMC Article

Recent clinical studies

Etiology

Orgebin E, Lamoureux F, Isidor B, Charrier C, Ory B, Lézot F, Baud'huin M
Cells 2020 Sep 11;9(9) doi: 10.3390/cells9092080. PMID: 32932838Free PMC Article
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
van Dooijeweert B, van Ommen CH, Smiers FJ, Tamminga RYJ, Te Loo MW, Donker AE, Peters M, Granzen B, Gille HJJP, Bierings MB, MacInnes AW, Bartels M
Eur J Haematol 2018 Feb;100(2):163-170. Epub 2017 Dec 1 doi: 10.1111/ejh.12995. PMID: 29114930
Danilova N, Gazda HT
Dis Model Mech 2015 Sep;8(9):1013-26. doi: 10.1242/dmm.020529. PMID: 26398160Free PMC Article
Smetanina NS, Mersiyanova IV, Kurnikova MA, Ovsyannikova GS, Hachatryan LA, Bobrynina VO, Maschan MA, Novichkova GA, Lipton JM, Maschan AA
Pediatr Blood Cancer 2015 Sep;62(9):1597-600. Epub 2015 May 6 doi: 10.1002/pbc.25534. PMID: 25946618Free PMC Article

Diagnosis

Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
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
van Dooijeweert B, van Ommen CH, Smiers FJ, Tamminga RYJ, Te Loo MW, Donker AE, Peters M, Granzen B, Gille HJJP, Bierings MB, MacInnes AW, Bartels M
Eur J Haematol 2018 Feb;100(2):163-170. Epub 2017 Dec 1 doi: 10.1111/ejh.12995. PMID: 29114930
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article
Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M, Kuliev A
JAMA 2004 May 5;291(17):2079-85. doi: 10.1001/jama.291.17.2079. PMID: 15126435

Therapy

Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
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
Behfar M, Koochakzadeh L, Yazdanian N, Salajegheh P, Rostami T, Khodayari-Namini N, Ghavamzadeh A, Hamidieh AA
Turk J Pediatr 2019;61(3):407-412. doi: 10.24953/turkjped.2019.03.013. PMID: 31916719
Alessandri AJ, Rogers PC, Wadsworth LD, Davis JH
J Pediatr Hematol Oncol 2000 Mar-Apr;22(2):176-9. doi: 10.1097/00043426-200003000-00020. PMID: 10779036

Prognosis

Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
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
Behfar M, Koochakzadeh L, Yazdanian N, Salajegheh P, Rostami T, Khodayari-Namini N, Ghavamzadeh A, Hamidieh AA
Turk J Pediatr 2019;61(3):407-412. doi: 10.24953/turkjped.2019.03.013. PMID: 31916719
van Dooijeweert B, van Ommen CH, Smiers FJ, Tamminga RYJ, Te Loo MW, Donker AE, Peters M, Granzen B, Gille HJJP, Bierings MB, MacInnes AW, Bartels M
Eur J Haematol 2018 Feb;100(2):163-170. Epub 2017 Dec 1 doi: 10.1111/ejh.12995. PMID: 29114930
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article

Clinical prediction guides

van Dooijeweert B, van Ommen CH, Smiers FJ, Tamminga RYJ, Te Loo MW, Donker AE, Peters M, Granzen B, Gille HJJP, Bierings MB, MacInnes AW, Bartels M
Eur J Haematol 2018 Feb;100(2):163-170. Epub 2017 Dec 1 doi: 10.1111/ejh.12995. PMID: 29114930
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article
Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA
PLoS Genet 2013;9(1):e1003094. Epub 2013 Jan 31 doi: 10.1371/journal.pgen.1003094. PMID: 23382688Free PMC Article
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
Blood 2001 Apr 1;97(7):2145-50. doi: 10.1182/blood.v97.7.2145. PMID: 11264183
Abkowitz JL, Sabo KM, Nakamoto B, Blau CA, Martin FH, Zsebo KM, Papayannopoulou T
Blood 1991 Nov 1;78(9):2198-202. PMID: 1718487

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