Clinical utility gene card for: Diamond Blackfan anemia

Vlachos, Adrianna; Dahl, Niklas; Dianzani, Irma; Lipton, Jeffrey M.

doi:10.1038/ejhg.2010.247

Cited by 2 publications

(3 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Mutations in genes encoding ribosomal protein S7, S24, S17, S10, or L35a account for another small percentage of cases (summarized in Vlachos et al 8 ). To date, all reported mutations have been heterozygous, which is consistent with the autosomal dominant pattern of inheritance most commonly seen in familial DBA.…”

Section: Dba Geneticsmentioning

confidence: 71%

“…It may also help to elucidate the pathophysiology of DBA. Sequencing of all ribosomal protein genes is clearly warranted, including screening for large deletions, 8 but other candidate genes may be indicated by the potential molecular mechanisms for DBA discussed above; broadening the search may identify the exception that proves the rule. Studying the genotypephenotype correlation in cells with missense dominant-negative mutations affecting ribosomal protein genes will also be of value in identifying critical interactions in the pathophysiology of DBA.…”

Section: Identity Of Outstanding Dba Genesmentioning

confidence: 99%

See 1 more Smart Citation

Diamond Blackfan Anemia

Ball

2011

Hematology

View full text Add to dashboard Cite

Mutations affecting genes encoding ribosomal proteins cause Diamond Blackfan anemia (DBA), a rare congenital syndrome associated with physical anomalies, short stature, red cell aplasia, and an increased risk of malignancy. p53 activation has been identified as a key component in the pathophysiology of DBA after cellular and molecular studies of knockdown cellular and animal models of DBA and other disorders affecting ribosomal assembly or function. Other potential mechanisms that warrant further investigation include impaired translation as the result of ribosomal insufficiency, which may be ameliorated by leucine supplementation, and alternative splicing leading to reduced expression of a cytoplasmic heme exporter, the human homolog of the receptor for feline leukemia virus C (FVLCR). However, the molecular basis for the characteristic steroid responsiveness of the erythroid failure in DBA remains unknown. This review explores the clinical and therapeutic implications of the current state of knowledge and delineates important but as-yet-unanswered questions.

show abstract

Section: Dba Geneticsmentioning

confidence: 71%

Section: Identity Of Outstanding Dba Genesmentioning

confidence: 99%

Diamond Blackfan Anemia

Ball

2011

Hematology

View full text Add to dashboard Cite

show abstract

“…A Síndrome de Blackfan-Diamond (SBD) é uma anemia congênita rara, com uma incidência estimada de 5-10/10 6 nascidos vivos. (VLACHOS et al, 2013 COSTA, NARLA & MOHANDAS, 2018) A síndrome é hereditária em 40-45% dos casos por herança autossômica dominante e os 55-60% restantes são esporádicos. A herança autossômica recessiva foi relatada com menor frequência.…”

Section: Introductionunclassified

Síndrome De Blackfan-Diamond: Um Relato De Caso

Spack

Silveira²,

Andrade³

2019

FAG J of health

View full text Add to dashboard Cite

A síndrome de Blackfan-Diamond é uma rara anemia congênita, diagnosticada no início da infância. Os principais sintomas apresentados são anemia, anormalidades ósseas e dificuldade de ganhar peso. O diagnóstico é obtido por hemograma e aspirado de Medula Óssea. O tratamento consiste em corticoterapia, programa de transfusão sanguínea e transplante de medula óssea. No caso descrito, o paciente do sexo masculino, de 11 anos de idade, portador da síndrome com diagnóstico no primeiro mês de vida e refratário à corticoterapia, realiza transfusão sanguínea a cada 21 dias e espera por doador para transplante de medula óssea. O paciente em questão apresenta a maioria dos sintomas clássicos da doença, porém não é responsivo a um dos principais tratamentos. Apesar da refratariedade ao tratamento com corticoterapia, o paciente apresenta-se estável no programa de transfusão enquanto aguarda doador compatível para transplante de medula óssea.

show abstract

Clinical utility gene card for: Diamond Blackfan anemia

Cited by 2 publications

References 19 publications

Diamond Blackfan Anemia

Diamond Blackfan Anemia

Síndrome De Blackfan-Diamond: Um Relato De Caso

Contact Info

Product

Resources

About