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atransferrinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atransferrinemia

MONDO:0008846

Also known as:congenital atransferrinemiacongenital hypotransferrinemiafamilial hypotransferrinemia

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Overview

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

GeneticsAutosomal recessive · TF (chr 3)

Clinical Trials1 registered

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Abnormality of the liver, Atransferrinemia, Congestive heart failure, and Pale red blood cells (hypochromic anemia).

Organ System	Phenotype Count	Example Features
Digestive system	1	Abnormality of the liver
Heart and blood vessels

Genetic Landscape

TF function has not been fully characterized.

Atransferrinemia has been associated with mutations in the TF gene on chromosome 3.

Diagnosis

Genetic testing for TF is available. Testing is considered supportive for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE2. Research is primarily industry-sponsored.

3 publications have been identified in PubMed for atransferrinemia. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Tian MM (2026). [PMID: 41997899](https://pubmed.ncbi.nlm.nih.gov/41997899/). *Cell Death Discov*. [Basic Science / Preclinical]
Jawanjal MP (2025). [PMID: 41220266](https://pubmed.ncbi.nlm.nih.gov/41220266/). *Cardiovascular & hematological disorders drug targets*. [Case Report / Case Series]
Iolascon A (2024). [PMID: 39011129](https://pubmed.ncbi.nlm.nih.gov/39011129/). *HemaSphere*. [Review / Meta-Analysis]

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:209300

Orphanet

European rare disease database

Orphanet:1195

GARD

Genetic and Rare Diseases Info Center

GARD:9595

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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atransferrinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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