Transfusion
July 10, 2026 · via Europe PMC
A novel homozygous ABCB6 variant causing the Lan null phenotype and anti-Lan-mediated hemolytic disease of the fetus and newborn: A case report and a review of anti-Lan in pregnancy.
Feng J, Tian L, Zhang Y, Zhu K, Wang H, Zhao H, Ye L, Chen J.
AI summary — for doctors, generated from the abstract only
A case report describes a novel homozygous ABCB6 variant causing the Lan null phenotype and mild anti-Lan hemolytic disease of the newborn that resolved on its own.
What was studied
A case report of a Chinese pregnant woman with a novel homozygous exon 17 ABCB6 variant (c.2312_2313del), with serological testing of maternal plasma, neonatal plasma and cord blood eluate, plus a literature review of anti-Lan in pregnancy.
Key findings
- Anti-Lan antibodies were detected in maternal plasma, neonatal plasma and cord blood eluate
- The newborn developed mild HDFN that resolved spontaneously without intervention
- This is described as the first anti-Lan HDFN case in an Asian population and the fifth worldwide
Clinical relevance
Raises awareness that rare high-prevalence antigen negativity can cause HDFN and helps blood banks and obstetric teams recognise and manage it.
Who should care
Limitations
A single case; findings cannot establish typical severity or best management of anti-Lan HDFN.
Anti-Lan HDFN is extremely rare and can be mild, but one case offers limited guidance.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
Background
The Lan antigen is a high-prevalence red blood cell antigen encoded by the ATP binding cassette subfamily B member 6 (ABCB6) gene. Variants in this gene are responsible for Lan null and variant phenotypes. Individuals lacking the Lan antigen may develop anti-Lan antibodies following sensitizing events such as transfusion or pregnancy. Hemolytic disease of the fetus and newborn (HDFN) caused by anti-Lan antibodies is extremely rare.
Case presentation
We report a case of a Chinese pregnant woman carrying a novel homozygous variant in exon 17 of the ABCB6 gene (NM_005689.4:c.2312_2313del), resulting in a Lan null phenotype. Anti-Lan antibodies were detected in maternal plasma, neonatal plasma, and cord blood eluate. The newborn developed mild HDFN, which resolved spontaneously without intervention, leading to a favorable outcome.
Conclusion
This represents the first documented case of anti-Lan-mediated HDFN in an Asian population and the fifth case worldwide. Our findings expand the genetic diversity and geographic spectrum of this rare condition and provide important insights for clinical management.
DOI
10.1111/trf.70319
PMID
42430167
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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