Diamond-Blackfan anemia

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Diamond-Blackfan anemia

ORPHA:124Disease

Also called DBA · Congenital PRCA · Congenital pure red cell aplasia · Diamond-Blackfan anemia syndrome

What it is

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

Key facts

Prevalence
1-9 / 1 000 000 (China)
Age of onset
Childhood, Infancy, Neonatal
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ADA2Disease-causing germline mutation(s)
GATA1Disease-causing germline mutation(s) (loss of function)
HEATR3Disease-causing germline mutation(s)
RPL11Disease-causing germline mutation(s)
RPL15Disease-causing germline mutation(s)
RPL18Disease-causing germline mutation(s)
RPL26Disease-causing germline mutation(s)
RPL35Disease-causing germline mutation(s)
RPL35ADisease-causing germline mutation(s)
RPL5Disease-causing germline mutation(s)
RPL8Disease-causing germline mutation(s) (loss of function)
RPL9Disease-causing germline mutation(s)
RPS10Disease-causing germline mutation(s)
RPS15ADisease-causing germline mutation(s) (loss of function)
RPS17Disease-causing germline mutation(s)
RPS19Disease-causing germline mutation(s)
RPS20Disease-causing germline mutation(s)
RPS24Disease-causing germline mutation(s)
RPS26Disease-causing germline mutation(s)
RPS28Disease-causing germline mutation(s) (loss of function)
RPS29Disease-causing germline mutation(s) (loss of function)
RPS7Disease-causing germline mutation(s)
TSR2Disease-causing germline mutation(s) (loss of function)
RPL27Candidate gene tested
RPL31Candidate gene tested
RPS27Candidate gene tested

ICD-10 codes

D61.0filed under a broader ICD-10 category — shared with 10 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 6274MEDDRA 10062989MESH D029503MONDO 0015253OMIM 105650OMIM 300946OMIM 606129OMIM 606164OMIM 610629OMIM 612527OMIM 612528OMIM 612561OMIM 612562OMIM 612563OMIM 613308OMIM 613309OMIM 614900OMIM 615550OMIM 615909OMIM 617408OMIM 617409OMIM 618310OMIM 618312OMIM 618313OMIM 620072UMLS C0265265

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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