Diamond-Blackfan anemia
MeSH: D029503ORPHA: 1242 Treatments Available
Overview
rare disease
Available Treatments (2)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| luspatercept Orphan Cold Chain | subcutaneous injection, 25 mg/vial, 75 mg/vial powder for solution | FDA Approved, EMA Approved | 8 | 10d |
| Erythropoietin Orphan Cold Chain | Injection | FDA Approved | 4 | 14d |
Clinical Presentation
Signs and symptoms associated with Diamond-Blackfan anemia, sourced from HPO and Orphanet clinical annotations.
Pure red cell aplasiaElevated red cell adenosine deaminase activityAbnormality of the headPallorLethargyGrowth delaySmall for gestational ageReticulocytopeniaIncreased mean corpuscular volumeMacrocytic dyserythropoietic anemiaPersistence of hemoglobin FErythroid hypoplasiaHypospadiasHorseshoe kidneyRenal agenesisAbnormality of the genitourinary systemCleft soft palateHigh palateWebbed neckShort neckSprengel anomalyTriphalangeal thumbAbnormality of the thenar eminenceAbnormal heart morphologyVentricular septal defectAtrial septal defectDecreased total leukocyte countNormochromic anemiaAbnormality of the upper limbMyelodysplasiaShort statureAbsent thumbShort thumbPartial duplication of thumb phalanxNeurodevelopmental delayRadial artery aplasiaCleft lipMicrocephalyEpicanthusLow anterior hairlineHypertelorismMicrognathiaLow-set earsWide nasal bridgeStrabismusPtosisDevelopmental cataractDevelopmental glaucomaCoarctation of aortaNonimmune hydrops fetalisThrombocytopeniaDecreased total neutrophil countThrombocytosisOsteosarcomaAcute myeloid leukemiaDepressed nasal bridgeMalignant genitourinary tract tumorMicrotiaAdenocarcinoma of the colon
Classification & Codes
MeSH Code
D029503Orphanet Code
ORPHA:124Diamond-Blackfan anemia
| MeSH | D029503 |
| Orphanet | ORPHA:124 |
| Treatments | 2 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO