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Diamond-Blackfan anemia 5(DBA5)

MedGen UID:
382705
•Concept ID:
C2675859
•
Disease or Syndrome
Synonyms: DBA5; RPL35A-Related Diamond-Blackfan Anemia
 
Gene (location): RPL35A (3q29)
 
Monarch Initiative: MONDO:0012925
OMIM®: 612528

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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
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/612528

Clinical features

From HPO
Hypospadias
MedGen UID:
163083
•Concept ID:
C0848558
•
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
See: Feature record | Search on this feature
Ventricular septal defect
MedGen UID:
42366
•Concept ID:
C0018818
•
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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Low-set ears
MedGen UID:
65980
•Concept ID:
C0239234
•
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
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Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Macrocytic anemia
MedGen UID:
1920
•Concept ID:
C0002886
•
Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Reticulocytopenia
MedGen UID:
167812
•Concept ID:
C0858867
•
Finding
A reduced number of reticulocytes in the peripheral blood.
See: Feature record | Search on this feature
Leukopenia
MedGen UID:
6073
•Concept ID:
C0023530
•
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
See: Feature record | Search on this feature
Hypertelorism
MedGen UID:
9373
•Concept ID:
C0020534
•
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Rao PV, Lu X, Pattee P, Turner M, Nandgaonkar S, Paturi BT, Roberts CT Jr, Nagalla SR
J Assoc Physicians India 2005 Jun;53:521-6. PMID: 16121806

Curated

Clinical utility gene card for: Diamond Blackfan anemia.
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

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
The Genetic Landscape of Diamond-Blackfan Anemia.
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
Am J Hum Genet 2018 Dec 6;103(6):930-947. Epub 2018 Nov 29 doi: 10.1016/j.ajhg.2018.10.027. PMID: 30503522Free PMC Article
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M
Best Pract Res Clin Haematol 2015 Mar;28(1):55-68. Epub 2014 Nov 12 doi: 10.1016/j.beha.2014.11.004. PMID: 25659730Free PMC Article
Molecular pathogenesis in Diamond-Blackfan anemia.
Ito E, Konno Y, Toki T, Terui K
Int J Hematol 2010 Oct;92(3):413-8. Epub 2010 Sep 30 doi: 10.1007/s12185-010-0693-7. PMID: 20882441
Aplastic crisis.
Koch WC, Massey GV
Pediatr Rev 1990 Nov;12(5):142-8. doi: 10.1542/pir.12-5-142. PMID: 2284214

Diagnosis

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel
Lancet Haematol 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. PMID: 38697731
The Genetic Landscape of Diamond-Blackfan Anemia.
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
Am J Hum Genet 2018 Dec 6;103(6):930-947. Epub 2018 Nov 29 doi: 10.1016/j.ajhg.2018.10.027. PMID: 30503522Free PMC Article
Molecular pathogenesis in Diamond-Blackfan anemia.
Ito E, Konno Y, Toki T, Terui K
Int J Hematol 2010 Oct;92(3):413-8. Epub 2010 Sep 30 doi: 10.1007/s12185-010-0693-7. PMID: 20882441
Diamond-Blackfan Anaemia: an overview.
Dianzani I, Garelli E, Ramenghi U
Paediatr Drugs 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002. PMID: 11022796
Aplastic crisis.
Koch WC, Massey GV
Pediatr Rev 1990 Nov;12(5):142-8. doi: 10.1542/pir.12-5-142. PMID: 2284214

Therapy

Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag.
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
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: 35163808Free PMC Article
Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase.
Wilkes MC, Siva K, Chen J, Varetti G, Youn MY, Chae H, Ek F, Olsson R, Lundbäck T, Dever DP, Nishimura T, Narla A, Glader B, Nakauchi H, Porteus MH, Repellin CE, Gazda HT, Lin S, Serrano M, Flygare J, Sakamoto KM
Nat Commun 2020 Jul 3;11(1):3344. doi: 10.1038/s41467-020-17100-z. PMID: 32620751Free PMC Article
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M
Best Pract Res Clin Haematol 2015 Mar;28(1):55-68. Epub 2014 Nov 12 doi: 10.1016/j.beha.2014.11.004. PMID: 25659730Free PMC Article
Diamond-Blackfan Anaemia: an overview.
Dianzani I, Garelli E, Ramenghi U
Paediatr Drugs 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002. PMID: 11022796

Prognosis

The Genetic Landscape of Diamond-Blackfan Anemia.
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
Am J Hum Genet 2018 Dec 6;103(6):930-947. Epub 2018 Nov 29 doi: 10.1016/j.ajhg.2018.10.027. PMID: 30503522Free PMC Article
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.
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
Growth hormone improves short stature in children with Diamond-Blackfan anemia.
Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR
Pediatr Blood Cancer 2015 Mar;62(3):402-8. Epub 2014 Dec 9 doi: 10.1002/pbc.25341. PMID: 25492299
Diamond-Blackfan anemia, ribosome and erythropoiesis.
Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T
Transfus Clin Biol 2010 Sep;17(3):112-9. Epub 2010 Jul 23 doi: 10.1016/j.tracli.2010.06.001. PMID: 20655265Free PMC Article
Aplastic crisis.
Koch WC, Massey GV
Pediatr Rev 1990 Nov;12(5):142-8. doi: 10.1542/pir.12-5-142. PMID: 2284214

Clinical prediction guides

A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.
Yu L, Lemay P, Ludlow A, Guyot MC, Jones M, Mohamed FF, Saroya GA, Panaretos C, Schneider E, Wang Y, Myers G, Khoriaty R, Li Q, Franceschi R, Engel JD, Kaartinen V, Rothstein TL, Justice MJ, Kibar Z, Singh SA
Blood Adv 2021 Oct 26;5(20):4167-4178. doi: 10.1182/bloodadvances.2021004658. PMID: 34464976Free PMC Article
Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase.
Wilkes MC, Siva K, Chen J, Varetti G, Youn MY, Chae H, Ek F, Olsson R, Lundbäck T, Dever DP, Nishimura T, Narla A, Glader B, Nakauchi H, Porteus MH, Repellin CE, Gazda HT, Lin S, Serrano M, Flygare J, Sakamoto KM
Nat Commun 2020 Jul 3;11(1):3344. doi: 10.1038/s41467-020-17100-z. PMID: 32620751Free PMC Article
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
Volejnikova J, Vojta P, Urbankova H, Mojzíkova R, Horvathova M, Hochova I, Cermak J, Blatny J, Sukova M, Bubanska E, Feketeova J, Prochazkova D, Horakova J, Hajduch M, Pospisilova D
Blood Cells Mol Dis 2020 Mar;81:102380. Epub 2019 Nov 11 doi: 10.1016/j.bcmd.2019.102380. PMID: 31855845
The Genetic Landscape of Diamond-Blackfan Anemia.
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
Am J Hum Genet 2018 Dec 6;103(6):930-947. Epub 2018 Nov 29 doi: 10.1016/j.ajhg.2018.10.027. PMID: 30503522Free PMC Article
Diamond-Blackfan Anaemia: an overview.
Dianzani I, Garelli E, Ramenghi U
Paediatr Drugs 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002. PMID: 11022796

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