Features include always present findings: Hypochromic microcytic anemia, Low red blood cell count (anemia), Refractory anemia with ringed sideroblasts, and Reduced hematocrit and others.

HSCB encodes HscB mitochondrial iron-sulfur cluster cochaperone (235 aa). Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria. Highest expression in Cervix Endocervix (33.7 TPM) and Cervix Ectocervix (30.3 TPM).

Anemia, sideroblastic, 5 is associated with mutations in the HSCB gene on chromosome 22.

The HSCB protein participates in 2Fe-2S is inserted in UQCRFS1, NUBPL transfers 4Fe-4S to NDUFV1, V2, and Formation of 4Fe-4S cluster on ISCA1:ISCA2 pathways.

HSCB is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for HSCB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for anemia, sideroblastic, 5 has been reported in the published literature.

Phenotype severity distribution: 6 always present features.

No clinical trials have been registered for anemia, sideroblastic, 5.

29 publications have been identified in PubMed for anemia, sideroblastic, 5. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (14%), and Basic Science / Preclinical (14%).