Disease

Diamond-Blackfan anemia 41

Gene

RPS17

Inheritance AD
Current Treatments corticosteroids, red blood cell transfusion, hematopoietic stem cell transplantation (HSCT) - bone marrow transplant
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test Complete blood count with reticulocyte count, erythrocyte adenosine deaminase activity, fetal hemoglobin, bone marrow aspiration and biopsy2
Disease Frequency (per 100,000) 0.753
Genes Included in Disease Frequency RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26, GATA1, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPS7, RPS15A, RPS27, RPS28, RPS29, TSR2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Diamond+Blackfan+Anemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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