# Anemia de Diamond-Blackfan

> Página oficial: https://raras.org/doenca/anemia-de-diamond-blackfan
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 124 — https://www.orpha.net/en/disease/detail/124
- **CID-10**: D61.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A anemia de Blakfan-Diamond (DBA) é uma anemia congénita arregenerativa e frequentemente macrocítica com eritroblastopenia.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (179 fenótipos HPO)

- **Atraso de crescimento** — HPO: HP:0001510 (Frequente (79-30%))
- **Defeitos de redução do antebraço** — HPO: HP:0006368
- **Hipocelularidade da medula óssea** — HPO: HP:0005528
- **Coloboma da pálpebra** — HPO: HP:0000625
- **Valva aórtica bicúspide** — HPO: HP:0001647
- **Fenda palatina bilateral** — HPO: HP:0100337
- **Aplasia dos dedos** — HPO: HP:0009380
- **Sinostose radioulnar** — HPO: HP:0002974
- **Anemia por produção inadequada** — HPO: HP:0010972
- **Hipoplasia da ulna** — HPO: HP:0003022
- **Agenesia renal unilateral** — HPO: HP:0000122
- **Aplasia radial unilateral** — HPO: HP:0011908
- **Cílios esparsos** — HPO: HP:0000653
- **Criptorquidia unilateral** — HPO: HP:0012741
- **Nariz curto** — HPO: HP:0003196
- **Vermelhão do lábio superior espesso** — HPO: HP:0000215
- **Hipoplasia granulocítica** — HPO: HP:0012139
- **Osteopenia** — HPO: HP:0000938
- **Escoliose** — HPO: HP:0002650
- **Infecções recorrentes** — HPO: HP:0002719
- **Polidrâmnio** — HPO: HP:0001561
- **Otite média recorrente** — HPO: HP:0000403
- **Eminência hipotenar pequena** — HPO: HP:0010487
- **Sofrimento fetal** — HPO: HP:0025116
- **Osteoporose** — HPO: HP:0000939
- **Refluxo vesicoureteral** — HPO: HP:0000076
- **Esofagite** — HPO: HP:0100633
- **Displasia acetabular** — HPO: HP:0008807
- **Anemia normocítica** — HPO: HP:0001897
- **Retorno venoso pulmonar anômalo total** — HPO: HP:0005160
- **Tórax estreito** — HPO: HP:0000774
- **Espinha bífida oculta** — HPO: HP:0003298
- **Glaucoma congênito primário** — HPO: HP:0008007
- **Deficiência intelectual** — HPO: HP:0001249
- **Nevo** — HPO: HP:0003764
- **Displasia do quadril** — HPO: HP:0001385
- **Braquidactilia** — HPO: HP:0001156
- **Costelas supranumerárias** — HPO: HP:0005815
- **Hérnia diafragmática de Morgagni** — HPO: HP:0025194
- **Achatamento malar** — HPO: HP:0000272
- _...e mais 139 sintomas. Ver https://raras.org/doenca/anemia-de-diamond-blackfan._

## Genes associados (26)

- **RPL18** — Large ribosomal subunit protein eL18 [Disease-causing germline mutation(s) in]
  - Função: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the sy
- **RPL8** — Large ribosomal subunit protein uL2 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell
- **ADA2** — Adenosine deaminase 2 [Disease-causing germline mutation(s) in]
  - Função: Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optima
- **RPS10** — Small ribosomal subunit protein eS10 [Disease-causing germline mutation(s) in]
  - Função: Component of the 40S ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399)
- **RPL35A** — Large ribosomal subunit protein eL33 [Disease-causing germline mutation(s) in]
  - Função: Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, P
- **RPS29** — Small ribosomal subunit protein uS14 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (P
- **RPS19** — Small ribosomal subunit protein eS19 [Disease-causing germline mutation(s) in]
  - Função: Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for pre-
- **RPS28** — Small ribosomal subunit protein eS28 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (P
- **RPS24** — Small ribosomal subunit protein eS24 [Disease-causing germline mutation(s) in]
  - Função: Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for proc
- **RPL31** — Large ribosomal subunit protein eL31 [Candidate gene tested in]
  - Função: Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, P
- **RPL11** — Large ribosomal subunit protein uL5 [Disease-causing germline mutation(s) in]
  - Função: Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:19191325, PubMed:32669547). The small ribosomal subunit (SSU) binds messenger
- **RPL9** — Large ribosomal subunit protein uL6 [Disease-causing germline mutation(s) in]
  - Função: Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, P
- **GATA1** — Erythroid transcription factor [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within
- **RPL26** — Large ribosomal subunit protein uL24 [Disease-causing germline mutation(s) in]
  - Função: Component of the large ribosomal subunit (PubMed:23636399, PubMed:26100019, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (P
- **RPL35** — Large ribosomal subunit protein uL29 [Disease-causing germline mutation(s) in]
  - Função: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (P

## Medicamentos em desenvolvimento (9)

- FLUDARABINE PHOSPHATE — Fase Phase 2 (DNA polymerase (alpha/delta/epsilon) inhibitor)
- DACLIZUMAB — Fase Phase 2 (Interleukin-2 receptor inhibitor)
- MYCOPHENOLATE MOFETIL — Fase Phase 2 (Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor)
- TACROLIMUS ANHYDROUS — Fase Phase 2 (FK506-binding protein 1A inhibitor)
- FILGRASTIM — Fase Phase 2 (Granulocyte colony stimulating factor receptor agonist)
- METHOTREXATE — Fase Phase 2 (Dihydrofolate reductase inhibitor)
- SOTATERCEPT — Fase Phase 1 (Inhibin beta A chain inhibitor)
- TRIFLUOPERAZINE — Fase Phase 1 (Serotonin 2c (5-HT2c) receptor antagonist)
- BITOPERTIN — Fase Phase 1 (Glycine transporter 1 inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0015253

## Ensaios clínicos ativos (9)

- **NCT07476183** [RECRUITING]: Assessing the Safety, Tolerability, and Efficacy of APR-2020 in Pediatric and Adolescent Subjects With RPS19 Deficient Diamond-Blackfan Anemia — https://clinicaltrials.gov/study/NCT07476183
- **NCT00106015** [RECRUITING]: Diamond Blackfan Anemia Registry (DBAR) — https://clinicaltrials.gov/study/NCT00106015
- **NCT00027274** [RECRUITING]: Cancer in Inherited Bone Marrow Failure Syndromes — https://clinicaltrials.gov/study/NCT00027274
- **NCT03050268** [RECRUITING]: Familial Investigations of Childhood Cancer Predisposition — https://clinicaltrials.gov/study/NCT03050268
- **NCT02720679** [RECRUITING]: Investigation of the Genetics of Hematologic Diseases — https://clinicaltrials.gov/study/NCT02720679
- **NCT07186179** [RECRUITING]: Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS) — https://clinicaltrials.gov/study/NCT07186179
- **NCT03653338** [RECRUITING]: T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias — https://clinicaltrials.gov/study/NCT03653338
- **NCT04099966** [RECRUITING]: AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion — https://clinicaltrials.gov/study/NCT04099966
- **NCT01966367** [ACTIVE_NOT_RECRUITING]: CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation — https://clinicaltrials.gov/study/NCT01966367
- **NCT04965597** [COMPLETED]: Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904) — https://clinicaltrials.gov/study/NCT04965597

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- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 52 sintomas em comum
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- [Trissomia parcial do braço longo do cromossomo 17](https://raras.org/doenca/trissomia-parcial-do-braco-longo-do-cromossomo-17) — ORPHA:262968 — 44 sintomas em comum
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## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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