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Diamond-Blackfan anemia 16(DBA16)

MedGen UID:: 1385861
•Concept ID:: C4479424
•: Disease or Syndrome

Synonym:	DBA16

Gene (location): Gene(s) directly associated with this condition or phenotype.	RPL27 (17q21.31)

Monarch Initiative:	MONDO:0044309
OMIM®:	617408

Clinical features

From HPO

Atrial septal defect

MedGen UID:: 6753
•Concept ID:: C0018817
•: Congenital Abnormality

Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.

See: Feature record | Search on this feature

Pulmonic stenosis

MedGen UID:: 408291
•Concept ID:: C1956257
•: Disease or Syndrome

A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).

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Anemia

MedGen UID:: 1526
•Concept ID:: C0002871
•: Disease or Syndrome

A reduction in erythrocytes volume or hemoglobin concentration.

See: Feature record | Search on this feature

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Abnormality of blood and blood-forming tissues
- Anemia
Abnormality of the cardiovascular system
- Atrial septal defect
- Pulmonic stenosis

Term Hierarchy

GTR
MeSH

Disorder by Site
- Hematopoietic and Lymphoid System Disorder
  - Hematologic disorder
    - Non-Neoplastic Hematologic and Lymphocytic Disorder
      - Congenital hematological disorder
        Diamond-Blackfan anemia
        Diamond-Blackfan anemia 16

Professional guidelines

PubMed

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW
Haematologica 2018 Jun;103(6):949-958. Epub 2018 Mar 29 doi: 10.3324/haematol.2017.177980. PMID: 29599205 Free PMC Article

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U
Haematologica 2010 Feb;95(2):206-13. Epub 2009 Sep 22 doi: 10.3324/haematol.2009.011783. PMID: 19773262 Free PMC Article

Diagnosis and management of red cell aplasia in children.

Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

See all (5)

Recent clinical studies

Etiology

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589

Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.

Sakaguchi H, Yoshida N
Int J Hematol 2022 Jul;116(1):16-27. Epub 2022 May 28 doi: 10.1007/s12185-022-03362-4. PMID: 35633493

Alloimmunization in transfused patients with constitutional anemias in Norway.

Furuseth MT, Alme C, Garvik LJ, Hellebostad M, Bechensteen AG, Akkök ÇA
Transfus Apher Sci 2021 Oct;60(5):103257. Epub 2021 Aug 17 doi: 10.1016/j.transci.2021.103257. PMID: 34420880

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

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

Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.

Fan X, Desmond R, Winkler T, Young DJ, Dumitriu B, Townsley DM, Gutierrez-Rodrigues F, Lotter J, Valdez J, Sellers SE, Barranta ME, Shalhoub RN, Wu CO, Albitar M, Calvo KR, Young NS, Dunbar CE
Blood Adv 2020 Apr 28;4(8):1700-1710. doi: 10.1182/bloodadvances.2020001657. PMID: 32330244 Free PMC Article

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Diagnosis

Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.

Sakaguchi H, Yoshida N
Int J Hematol 2022 Jul;116(1):16-27. Epub 2022 May 28 doi: 10.1007/s12185-022-03362-4. PMID: 35633493

Alloimmunization in transfused patients with constitutional anemias in Norway.

Furuseth MT, Alme C, Garvik LJ, Hellebostad M, Bechensteen AG, Akkök ÇA
Transfus Apher Sci 2021 Oct;60(5):103257. Epub 2021 Aug 17 doi: 10.1016/j.transci.2021.103257. PMID: 34420880

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

Managing the Unusual Causes of Fetal Anemia.

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

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP
Haematologica 2010 Aug;95(8):1300-7. Epub 2010 Apr 30 doi: 10.3324/haematol.2009.018119. PMID: 20435624 Free PMC Article

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Therapy

Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems.

Macečková Z, Kubíčková A, De Sanctis JB, Hajdúch M
Int J Mol Sci 2022 Feb 8;23(3) doi: 10.3390/ijms23031886. PMID: 35163808 Free PMC Article

Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.

Managing the Unusual Causes of Fetal Anemia.

Diamond-blackfan anemia and cyclosporine therapy revisited.

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

Diagnosis and management of red cell aplasia in children.

Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

See all (24)

Prognosis

Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.

Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249652. PMID: 33348919 Free PMC Article

Managing the Unusual Causes of Fetal Anemia.

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

Hematopoietic stem-cell transplantation using unrelated cord-blood versus matched sibling marrow in pediatric bone marrow failure syndrome: one center's experience.

Shaw PH, Haut PR, Olszewski M, Kletzel M
Pediatr Transplant 1999 Nov;3(4):315-21. doi: 10.1034/j.1399-3046.1999.00062.x. PMID: 10562977

Desferrioxamine ototoxicity in an adult transfusion-dependent population.

Chiodo AA, Alberti PW, Sher GD, Francombe WH, Tyler B
J Otolaryngol 1997 Apr;26(2):116-22. PMID: 9106087

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Clinical prediction guides

Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.

Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249652. PMID: 33348919 Free PMC Article

Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

Diagnosis and management of red cell aplasia in children.

Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Platelet number and function in Diamond-Blackfan anemia.

Buchanan GR, Alter BP, Holtkamp CA, Walsh EG
Pediatrics 1981 Aug;68(2):238-41. PMID: 7267232

See all (25)