Fanconi Anaemia — Research Summary
Printed from RareWays (rareways.com.au) on 18 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.
Cenciarelli Sabina et al. — American journal of medical genetics. Part A (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42071175/
- 2.
Establishing the First National Fanconi Anemia Registry in Iran: Clinical and Epidemiological Insights From 116 Patients.
Hamidieh Amir Ali et al. — Pediatric blood & cancer (16 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42745671/
- 3.
Case 25: A 37-Year-Old Woman With Fanconi Anemia and a Hepatic Mass.
Kang Min Gon et al. — Journal of Korean medical science (14 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42740661/
- 4.
Haematopoietic stem cell transplant in a case of mucopolysaccharidosis IV with Fanconi anaemia and bone marrow failure.
Mukherjee Swetlana et al. — BMJ case reports (11 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42728074/
- 5.
Fanconi Anemia in a Young Adult Male Presenting with Pancytopenia and Bilateral Ectopic Kidneys.
Shende Prakash et al. — Annals of African medicine (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42742978/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Fanconi Anaemia
Fanconi anaemia is a rare inherited condition in which cells cannot properly repair damaged DNA. It often causes bone marrow failure with low blood counts, differences in the bones, kidneys, skin and growth, and a raised risk of leukaemia and some solid cancers. Care involves regular blood and cancer surveillance, supportive treatment, and bone marrow transplant for marrow failure.
Most Recent Research
Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long-term follow-up is available. Here we present two young related adults born to consanguineous parents, in whom we identified the homozygous p.(Arg215Ter) variant in XRCC2. Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. Unlike in FA, DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected until the age of 19 and 20 years, respectively. Our report suggests that the homozygous p.(Arg215Ter) variant in XRRC2 causes a distinctive FA-like disorder, characterized by the typical physical characteristics seen in FA, but a lack of major hematological manifestations in childhood, and the presence of a more pronounced neurodevelopmental phenotype than that seen in FA.
Common Questions
What is Fanconi Anaemia?
Fanconi anaemia is a rare inherited condition in which cells cannot properly repair damaged DNA. It often causes bone marrow failure with low blood counts, differences in the bones, kidneys, skin and growth, and a raised risk of leukaemia and some solid cancers. Care involves regular blood and cancer surveillance, supportive treatment, and bone marrow transplant for marrow failure.
How many clinical trials are available for Fanconi Anaemia?
RareWays currently indexes 88 clinical trials for Fanconi Anaemia, of which 15 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Fanconi Anaemia come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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