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Inherited mosaicism affecting the ABO blood groups
Transfusion
|November 1, 1975
Summary
A new blood disorder, ABO mosaicism, causes mixed red blood cell types. This genetic condition results from altered regulation of ABO genes in some cells.
Area of Science:
- Genetics
- Hematology
- Immunogenetics
Background:
- Red blood cell (RBC) antigens are crucial for blood transfusion compatibility and disease diagnostics.
- The ABO blood group system is determined by the ABO gene, encoding glycosyltransferases that synthesize A and B antigens.
Observation:
- Individuals exhibit mixed populations of RBCs with two distinct ABO phenotypes.
- Previously identified causes of RBC mosaicism were ruled out.
- No other blood group systems were implicated in the observed phenotypes.
Findings:
- A novel inherited phenotype, designated ABO mosaicism (ABO mos), was identified.
- This condition is linked to a variant allele at the ABO locus.
- The mosaicism appears to stem from altered gene regulation of the ABO gene in a subset of somatic cells.
Implications:
- ABO mos presents a new challenge for blood transfusion compatibility and serological testing.
- Understanding the regulatory mechanism offers insights into gene expression control in hematopoiesis.
- Further research is needed to elucidate the precise molecular mechanisms underlying the altered gene regulation.