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{{Diamond-Blackfan anemia}}
{{Diamond-Blackfan anemia}}


{{CMG}}


{{SK}} Erythrogenesis imperfecta; congenital pure red cell aplasia, hereditary pure red cell aplasia, familial pure red cell aplasia
{{CMG}} {{AE}} [[User:Roghayeh Marandi|Roghayeh Marandi]][mailto:parastoo@aol.in]
 
{{SK}} Erythrogenesis imperfecta; congenital pure red cell aplasia, hereditary pure red cell aplasia, familial pure red cell aplasia, RP: Ribosomal proteins, RPS: small ribosomal subunit, RPL: large ribosomal subunit, DBA: Diamond-Blackfan anemia, SDS: Shwachman-Diamond syndrome, AML: Acute myeloid leukemia, MDS: Myelodysplastic syndrome, BMF: Bone marrow failure, CHH: Cartilage-hair hypoplasia, CAMT: Congenital amegakaryocytic thrombocytopenia, HbF: Hemoglobin F
 


==[[Diamond-Blackfan anemia overview|Overview]]==
==[[Diamond-Blackfan anemia overview|Overview]]==
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==[[Diamond-Blackfan anemia causes|Causes]]==
==[[Diamond-Blackfan anemia causes|Causes]]==
*A mutation in the RPS19 gene is the cause of DBA in about 25% of patients.
*Mutations in RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, and RPS26, and rarely in RPL15, RPL17, RPL19, RPL26, RPL27, RPL31, RPS15A, RPS20, RPS27, RPS28, RPS29 have also been found.<ref name="pmid30228860">{{cite journal |vauthors=Da Costa L, Narla A, Mohandas N |title=An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia |journal=F1000Res |volume=7 |issue= |pages= |date=2018 |pmid=30228860 |pmc=6117846 |doi=10.12688/f1000research.15542.1 |url=}}</ref>
*Mutation in non-RP genes, TSR2, GATA1, and EPO.<ref name="pmid30228860">{{cite journal |vauthors=Da Costa L, Narla A, Mohandas N |title=An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia |journal=F1000Res |volume=7 |issue= |pages= |date=2018 |pmid=30228860 |pmc=6117846 |doi=10.12688/f1000research.15542.1 |url=}}</ref>
* 20 percent of patients still have no known genetic cause.<ref name="pmid30228860">{{cite journal |vauthors=Da Costa L, Narla A, Mohandas N |title=An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia |journal=F1000Res |volume=7 |issue= |pages= |date=2018 |pmid=30228860 |pmc=6117846 |doi=10.12688/f1000research.15542.1 |url=}}</ref>


==[[Diamond-Blackfan anemia differential diagnosis|Differentiating Diamond-Blackfan anemia from other Diseases]]==
==[[Diamond-Blackfan anemia differential diagnosis|Differentiating Diamond-Blackfan anemia from other Diseases]]==
*Aplastic anemia
*Fanconi anemia
*Transient Erythroblastopenia of Childhood
*Shwachman-Diamond syndrome (SDS)<ref name="pmid29167174">{{cite journal |vauthors=Alter BP |title=Inherited bone marrow failure syndromes: considerations pre- and posttransplant |journal=Blood |volume=130 |issue=21 |pages=2257–2264 |date=November 2017 |pmid=29167174 |pmc=5714231 |doi=10.1182/blood-2017-05-781799 |url=}}</ref>
*Pearson syndrome
*Dyskeratosis congenita (DC)<ref name="pmid29167174">{{cite journal |vauthors=Alter BP |title=Inherited bone marrow failure syndromes: considerations pre- and posttransplant |journal=Blood |volume=130 |issue=21 |pages=2257–2264 |date=November 2017 |pmid=29167174 |pmc=5714231 |doi=10.1182/blood-2017-05-781799 |url=}}</ref>
*Cartilage-hair hypoplasia (CHH)
*Infections: Parvovirus B19, HIV, Viral hepatitis
*Drugs and toxins such antileptic drugs, azathioprine
*Immune-mediated disorders: Thymoma, Myasthenia Gravis, SlE


==[[Diamond-Blackfan anemia epidemiology and demographics|Epidemiology and Demographics]]==
==[[Diamond-Blackfan anemia epidemiology and demographics|Epidemiology and Demographics]]==
*Classical Diamond-Blackfan anemia (DBA) affects about seven per million live births per year. Thus in the United States, with 4 million live births per year, each year approximately 25-35 new patients  will be diagnosed.<ref name="pmid18671700">{{cite journal |vauthors=Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM |title=Diagnosing and treating Diamond Blackfan anemia: results of an international clinical consensus conference |journal=Br. J. Haematol. |volume=142 |issue=6 |pages=859–76 |date=September 2008 |pmid=18671700 |pmc=2654478 |doi=10.1111/j.1365-2141.2008.07269.x |url=}}</ref>


==[[Diamond-Blackfan anemia risk factors|Risk Factors]]==
==[[Diamond-Blackfan anemia risk factors|Risk Factors]]==


==[[Diamond-Blackfan anemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
==[[Diamond-Blackfan anemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
==Natural history==
Classic DBA:
*The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life.
*Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).
*Approximately half of DBA cases have physical abnormalities.
*The severity of Diamond-Blackfan anemia may vary, even within the same family. individuals with "non-classical" Diamond-Blackfan anemia with less severe symptoms have been identified. For example, some affected individuals have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems.
Non-classic DBA:
*presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated eADA, and/or elevated HbF concentration
*Onset later in life
*Congenital anomalies or short stature consistent with DBA and minimal or no evidence of abnormal
<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref>
==Complications==
*Common complications of Diamond black-fan include:
*Physical abnormalities
*higher-than-average chance of developing myelodysplastic syndrome (MDS), bone cancer (osteosarcoma), colon cancer
*increased risk of developing a bone marrow cancer such as acute myeloid leukemia (AML)
*Eye problems such as cataracts, glaucoma, or strabismus
*kidney abnormalities
*hypospadias


==Diagnosis==
==Diagnosis==
[[Diamond-Blackfan anemia history and symptoms|History and Symptoms]] | [[Diamond-Blackfan anemia physical examination|Physical Examination]] | [[Diamond-Blackfan anemia laboratory findings|Laboratory Findings]] |  [[Diamond-Blackfan anemia electrocardiogram|Electrocardiogram]] | [[Diamond-Blackfan anemia chest x ray|Chest X Ray]] | [[Diamond-Blackfan anemia CT|CT]] | [[Diamond-Blackfan anemia MRI|MRI]] | [[Diamond-Blackfan anemia echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Diamond-Blackfan anemia other imaging findings|Other Imaging Findings]] | [[Diamond-Blackfan anemia other diagnostic studies|Other Diagnostic Studies]]
[[Diamond-Blackfan anemia history and symptoms|History and Symptoms]] | [[Diamond-Blackfan anemia physical examination|Physical Examination]] | [[Diamond-Blackfan anemia laboratory findings|Laboratory Findings]] |  [[Diamond-Blackfan anemia electrocardiogram|Electrocardiogram]] | [[Diamond-Blackfan anemia chest x ray|Chest X Ray]] | [[Diamond-Blackfan anemia CT|CT]] | [[Diamond-Blackfan anemia MRI|MRI]] | [[Diamond-Blackfan anemia echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Diamond-Blackfan anemia other imaging findings|Other Imaging Findings]] | [[Diamond-Blackfan anemia other diagnostic studies|Other Diagnostic Studies]]
*The diagnosis is established when all four of the following diagnostic criteria are present:<ref name="pmid18671700">{{cite journal |vauthors=Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM |title=Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference |journal=Br. J. Haematol. |volume=142 |issue=6 |pages=859–76 |date=September 2008 |pmid=18671700 |pmc=2654478 |doi=10.1111/j.1365-2141.2008.07269.x |url=}}</ref><ref name="pmid20651069">{{cite journal |vauthors=Vlachos A, Muir E |title=How I treat Diamond-Blackfan anemia |journal=Blood |volume=116 |issue=19 |pages=3715–23 |date=November 2010 |pmid=20651069 |pmc=2981532 |doi=10.1182/blood-2010-02-251090 |url=}}</ref>
**Age younger than one year
**Macrocytic anemia with no other significant cytopenias
**Reticulocytopenia
**Normal marrow cellularity with a paucity of erythroid precursors
==History==
*Family history of DBA consistent with autosomal dominant inheritance
==symptoms==
*Pallor, weakness, irritability, failure to thrive
*Growth retardation (in about 30% )
*Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%):
**microcephaly
**low frontal hairline
**wide-set eyes (hypertelorism)
**droopy eyelids (ptosis)
**broad, flat bridge of the nose
**small, low-set ears
**small lower jaw (micrognathia)
**cleft palate
**cleft lip
**short, webbed neck
**Smaller and higher shoulder blades than usual
**malformed or absent thumbs


==Treatment==
==Treatment==

Latest revision as of 22:47, 25 September 2020

Diamond-Blackfan anemia
ICD-10 D61.0
ICD-9 284.01
OMIM 105650
DiseasesDB 29062
MeSH D029503

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Roghayeh Marandi[2]

Synonyms and keywords: Erythrogenesis imperfecta; congenital pure red cell aplasia, hereditary pure red cell aplasia, familial pure red cell aplasia, RP: Ribosomal proteins, RPS: small ribosomal subunit, RPL: large ribosomal subunit, DBA: Diamond-Blackfan anemia, SDS: Shwachman-Diamond syndrome, AML: Acute myeloid leukemia, MDS: Myelodysplastic syndrome, BMF: Bone marrow failure, CHH: Cartilage-hair hypoplasia, CAMT: Congenital amegakaryocytic thrombocytopenia, HbF: Hemoglobin F


Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Diamond-Blackfan anemia from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies

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Case #1

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