 Anemia, Diamond-Blackfan
"Anemia, Diamond-Blackfan" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
| Descriptor ID |
D029503
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| MeSH Number(s) |
C15.378.071.085.080.090 C15.378.071.750.500 C15.378.190.196.080.090 C16.320.077.090
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| Concept/Terms |
Anemia, Diamond-Blackfan- Anemia, Diamond-Blackfan
- Anemia, Diamond Blackfan
- Anemia, Diamond-Blackfan Type
- Anemia, Diamond Blackfan Type
- Diamond-Blackfan Type Anemia
- Blackfan-Diamond Syndrome
- Blackfan Diamond Syndrome
- Diamond-Blackfan Anemia
- Diamond Blackfan Anemia
- Erythrogenesis Imperfecta
- Erythrogenesis Imperfectas
- Imperfecta, Erythrogenesis
- Imperfectas, Erythrogenesis
- Red Cell Aplasia, Pure, Hereditary
- Blackfan Diamond Anemia
- Anemia, Blackfan Diamond
- Diamond Anemia, Blackfan
- Blackfan-Diamond Disease
- Blackfan Diamond Disease
- Disease, Blackfan-Diamond
- Chronic Congenital Agenerative Anemia
- Congenital Erythroid Hypoplastic Anemia
- Congenital Hypoplastic Anemia of Blackfan and Diamond
- Congenital Pure Red Cell Anemia
- Congenital Pure Red Cell Aplasia
- Hypoplastic Congenital Anemia
- Anemia, Hypoplastic Congenital
- Anemias, Hypoplastic Congenital
- Congenital Anemia, Hypoplastic
- Congenital Anemias, Hypoplastic
- Hypoplastic Congenital Anemias
- Inherited Erythroblastopenia
- Erythroblastopenia, Inherited
- Erythroblastopenias, Inherited
- Inherited Erythroblastopenias
- Pure Hereditary Red Cell Aplasia
- Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
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Below are MeSH descriptors whose meaning is more general than "Anemia, Diamond-Blackfan".
- Diseases [C]
- Hemic and Lymphatic Diseases [C15]
- Hematologic Diseases [C15.378]
- Anemia [C15.378.071]
- Anemia, Aplastic [C15.378.071.085]
- Anemia, Hypoplastic, Congenital [C15.378.071.085.080]
- Anemia, Diamond-Blackfan [C15.378.071.085.080.090]
- Red-Cell Aplasia, Pure [C15.378.071.750]
- Anemia, Diamond-Blackfan [C15.378.071.750.500]
- Bone Marrow Diseases [C15.378.190]
- Anemia, Aplastic [C15.378.190.196]
- Anemia, Hypoplastic, Congenital [C15.378.190.196.080]
- Anemia, Diamond-Blackfan [C15.378.190.196.080.090]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Anemia, Hypoplastic, Congenital [C16.320.077]
- Anemia, Diamond-Blackfan [C16.320.077.090]
Below are MeSH descriptors whose meaning is more specific than "Anemia, Diamond-Blackfan".
This graph shows the total number of publications written about "Anemia, Diamond-Blackfan" by people in this website by year, and whether "Anemia, Diamond-Blackfan" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2022 | 1 | 0 | 1 | | 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Anemia, Diamond-Blackfan" by people in Profiles.
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Fellmann F, Saunders C, O'Donohue MF, Reid DW, McFadden KA, Montel-Lehry N, Yu C, Fang M, Zhang J, Royer-Bertrand B, Farinelli P, Karboul N, Willer JR, Fievet L, Bhuiyan ZA, Kleinhenz AL, Jadeau J, Fulbright J, Rivolta C, Renella R, Katsanis N, Beckmann JS, Nicchitta CV, Da Costa L, Davis EE, Gleizes PE. An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants. JCI Insight. 2024 Aug 01; 9(17).
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Lebaron S, O'Donohue MF, Smith SC, Engleman KL, Juusola J, Safina NP, Thiffault I, Saunders CJ, Gleizes PE. Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype. Hum Mutat. 2022 03; 43(3):389-402.
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