The RH system is the most complex blood group system in humans, and Rh antibodies can potentially cause hemolytic reactions after transfusions or pregnancies. Rhnull is a rare phenotype, characterized by loss of all Rh antigens expression on red blood cells (RBCs). Individuals with Rhnull phenotype may exhibit a chronic compensated hemolytic anemia of varying severity, with stomatocytosis.Molecular genetic studies have demonstrated that Rhnull phenotype is transmitted in an autosomal recessive manner. On the basis of distinct genetic mechanisms, Rhnull is divided into two types, the regulator type and the amorph type. The regulator type, which is caused by mutations in the RHAG gene, is more common. A functional RhAG is necessary for Rh antigen expression and the correct assembly of the Rh proteins in the RBC membrane. All molecular defects of the RHAG gene are confirmed to be harmful and can cause Rhnull phenotype. In this study, we reported a molecular genetic study of a Chinese Rhnull woman and identified a novel deletion mutation in the RHAG gene.METHODSThe proband was a 20‐year‐old woman without transfusion history. She had a hemoglobin level of 96 g/L and a severe reticulocytosis (17.39%). Blood samples were obtained from the proband and her parents.
Transfusion – Wiley
Published: Jan 1, 2018
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