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A novel double-variant RHAG allele leads to Rhmod phenotype
Transfusion Medicine (Oxford, England)
|April 30, 2019
Summary
Researchers identified a novel RHAG gene variant in a family with Rhmod phenotype, explaining the rare lack of red blood cell antigen expression. This finding clarifies the genetic basis of this blood group anomaly.
Area of Science:
- Hematology
- Genetics
- Immunology
Background:
- Rh deficiency phenotypes are rare, characterized by reduced or absent Rh antigen expression on red blood cells (RBCs).
- Routine blood screening identified a donor with apparent lack of Rh antigens, prompting further family investigation.
Observation:
- The proband and a sibling exhibited very weak D antigen and Rh expression without anemia.
- RBC antigen profiles showed similarities and some differences compared to previously reported Rh-deficient cases.
Findings:
- Molecular analysis revealed a novel, homozygous RHAG allele (c.[572G>A;707A>C]) in the affected individuals.
- This represents the second identified double-variant RHAG allele and the first associated with the Rhmod phenotype.
Implications:
- The identified RHAG allele is heritable, contributing to the understanding of Rhmod inheritance patterns.
- This discovery advances knowledge of the genetic underpinnings of rare blood group phenotypes and their clinical relevance.
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