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  • Title: [Partial deletion of the D antigen in a family group. Determination of its antigenic density by flow cytometry].
    Author: Hernández T, León G, Sánchez P.
    Journal: Sangre (Barc); 1994 Apr; 39(2):139-43. PubMed ID: 7520193.
    Abstract:
    UNLABELLED: Mutations within the genetic Rh system can produce partial deletions of one or more epitope of the D antigen, known as incomplete D. These people, classified Rh positive, are capable of producing anti-D antibodies when exposed to D positive red blood cells (rbcs). We describe the study of a Rh positive, 34 year old, spanish-indian ("mestiza") female patient, in whose blood anti-D antibodies were detected after a blood transfusions. The results of the tests showed a partial deletion of the D antigen in the patient and three of her family members. PATIENTS AND METHODS: The following tests were done to the patient and her family members: 1) ABO and Rh typing; 2) Direct antiglobulin test; 3) Detection of irregular antibodies in their blood serum; 4) Rh genotype; 5) Cross matching of the patient's serum with rbcs of her Rh positive relatives; 6) Titration of a monoclonal anti-D (IgM) and a polyclonal anti-D (IgG) of human origin with the patient's rbcs and with Rh positive rbcs of her family members whose erythrocytes didn't react with the patient's serum; 7) Measurement of the antigenic density of the D antigen by flow cytometry (indirect immunofluorescence) in the rbcs of the patient and in those family members who had the defect, using a polyclonal anti-D (IgG). RESULTS: 1) An anti-D antibody which didn't react with its own Rh positive rbcs was found in the patient's serum; 2) This antibody didn't react with the Rh positive rbcs of her father and two out of her 4 brothers; 3) The cytometric study of these cells (R)r) showed a immunofluorescence pattern weaker than the control cells of the same genotype, but with a variable expression between 15 to 41%. CONCLUSIONS: The study showed: 1) The presence of an anti-D antibody in a Rh positive patient who had been previously sensitized (by blood transfusion); 2) This antibody was able to react with Rh positive rbcs but not with those of the patient and her family members who had the same partial deletion; 3) The defect was transmitted heterozygously, with a high degree of penetration, but with variable expression; 4) A low antigenic density for her D antigen by flow cytometry.
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