What's Diamond-Blackfan anemia?
Diamond-Blackfan anemia is an inherited bone-marrow-failure syndrome and a ribosomopathy: most cases come from a faulty copy of one of more than 20 ribosomal protein genes, with RPS19 the most common (about a quarter of patients). The marrow fails specifically to make red cells (pure red-cell aplasia / erythroid hypoplasia), producing severe macrocytic anemia, usually in infancy. About half of patients have congenital anomalies (thumb/radial, craniofacial, cardiac, genitourinary), short stature is common, and there is an increased risk of myelodysplastic syndrome, leukemia, and solid cancers. It is distinct from Fanconi anemia (a DNA-repair disorder with pancytopenia) despite overlapping features. This entry confirms RPS19 as the principal driver and leaves the other ribosomal genes as unconfirmed scaffold.
| Also indexed as | ORPHA:124, MONDO:0015253 |
|---|---|
| Features mapped | 13 |
| Treatments mapped | 3 |
| Published sources | 12 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Short stature
Many children with Diamond-Blackfan anemia are shorter than expected for their age. In a national registry, height was below the third percentile in roughly a quarter of patients, reflecting both the condition itself and the effects of long-term steroid treatment.
Autosomal dominant inheritance
Diamond-Blackfan anemia is often caused by a change in one copy of a ribosomal protein gene. A change in a single copy is what gives it an autosomal dominant inheritance pattern.
Thrombocytopenia
Although Diamond-Blackfan anemia mainly affects red cells, some people also have low platelets (thrombocytopenia), which can increase bruising and bleeding. In a large adult registry it was present in a meaningful minority of patients, so blood counts track more than just the red cells.
Macrocytic anemia
The central feature is macrocytic anemia: too few red blood cells, and the cells that are made are larger than normal. It usually presents in infancy.
Decreased total neutrophil count
Some people with Diamond-Blackfan anemia also have low neutrophils, a type of infection-fighting white blood cell (neutropenia). When present it can raise the risk of infections, which is why the full blood count is followed over time, not only the red cells.
Myelodysplasia
Over a lifetime there is an increased risk of myelodysplastic syndrome, a disorder of the bone marrow that warrants long-term surveillance.
Abnormality of the upper limb
About a fifth of people with Diamond-Blackfan anemia have abnormalities of the thumb or hand, such as an extra-jointed (triphalangeal), small, or absent thumb. These limb differences are a recognized clue that can point toward the diagnosis alongside the anemia.
Abnormal heart morphology
Congenital heart defects (structural differences in how the heart formed) occur in a minority of people with Diamond-Blackfan anemia, as part of the syndrome's pattern of birth differences. They range from small septal defects to more complex malformations.
Macrocytic dyserythropoietic anemia
Diamond-Blackfan anemia is marked by macrocytic anemia, meaning the red blood cells are fewer than normal and larger than normal. It usually begins early in childhood.
Erythroid hypoplasia
The marrow problem is specific to the red-cell line: erythroid hypoplasia means the red-cell precursors are markedly reduced, while white cells and platelets are typically normal at first.
Pure red cell aplasia
Diamond-Blackfan anemia is a congenital pure red-cell aplasia: the marrow essentially stops producing red cells while other blood lineages are initially spared.
Adenocarcinoma of the colon
Among inherited bone marrow failure syndromes, the strongest reported link to colorectal cancer is in Diamond-Blackfan anemia syndrome, and it can occur at younger ages than in the general population.
Acute myeloid leukemia
There is also an increased risk of acute myeloid leukemia and of solid-organ cancers, which is part of why ongoing monitoring matters.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
corticosteroids
Corticosteroid therapy is a main treatment for Diamond-Blackfan anemia. Over the long term about half of people stop responding to it and then need blood transfusions instead.
Used to help with: Diamond-Blackfan anemia.
“Corticosteroids are the only effective initial pharmacotherapy offered to transfusion-dependent patients aged 1 year or older.”
red blood cell transfusion
Patients who do not respond to steroids rely on chronic red blood cell transfusions, which require iron chelation to manage the iron overload that builds up over time.
Used to help with: Diamond-Blackfan anemia.
“…chronic red blood cell…”
hematopoietic stem cell transplantation
Hematopoietic stem cell transplantation is currently the only cure for Diamond-Blackfan anemia, but it is limited by finding a suitable donor and by the risk of serious immune complications.
Used to help with: Diamond-Blackfan anemia.
“…hematopoietic stem cell transplantation is the only cure for…”
How to read the evidence labels
Where this comes from
This guide is built from 12 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.