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anemia, congenital dyserythropoietic, type IVb - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

anemia, congenital dyserythropoietic, type IVb

MONDO:0975829

Overview

GeneticsKLF1 (chr 19)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KLF1 encodes KLF transcription factor 1 (362 aa). Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Highest expression in Whole Blood (21.6 TPM) and Spleen (1.4 TPM).

Anemia, congenital dyserythropoietic, type IVb is associated with mutations in the KLF1 gene on chromosome 19.

The KLF1 protein participates in Expression of KLF15, GATA3, CHD4, EP300, NFATC2 (NFAT1), FOS:JUN (AP-1), KLF13, and MAF bind the IL4 gene, and GATA3, CHD4, EP300, NFATC2 (NFAT1), FOS:JUN (AP-1), KLF13, MAF, YY1, ETS1, POU2F1 (OCT1), POU2F2 (OCT2), BATF, SATB1, IRF4, SMARCA4, and STAT6 positively regulate expression of IL4 pathways.

KLF1 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for KLF1 is available. Testing is considered confirmatory for diagnosis.

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620969

Questions for Your Care Team

→Should I pursue genetic testing for KLF1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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anemia, congenital dyserythropoietic, type IVb

Overview

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team