![]() ![]() She had no history of previous blood transfusion. There was no history of abortion, miscarriage or any foetal loss. Her only previous baby was a healthy two year old male child. Her obstetrical history revealed that she was second gravida. Her past history was significant for long-standing anaemia of mild to moderate severity of unknown etiology that did not respond to therapeutic trials with iron or other vitamin supplementations. To the best of our knowledge this is the first case report of Rhnull syndrome from Pakistan.Ī 22-year-old pregnant female previously typed as blood group A, Rh (D) negative with positive red cell antibody screen was referred to AKUH clinical laboratory for identification of antibody. ![]() In this report, we describe the rare Rhnull phenotype in a young female who was referred to our laboratory for routine antenatal red cell antibody screening and identification. Both genotypes result in the same clinical syndrome characterised by chronic haemolysis of varying severity, with stomatocytosis, spherocytosis, increased osmotic fragility, altered phospholipids asymmetry, altered cell volume, defective cation fluxes, and elevated Na+/K+ ATPase activity. The \'amorph\' type is the result of molecular change in RHCE gene with a deleted RHD gene, whereas the more common \'regulator\' type is associated with the defect in RHAG gene. The Rhnull is produced by at least two different genetic mechanisms. 2 In Rhnull subjects the commonest antibody formed in response to transfusion or pregnancy reacts with all cells except Rhnull cells. In addition to lacking Rh antigens, Rhnull cells also lack LW and Fy5, and have a reduced expression of Ss, U, and Duclos antigens. 1 The characteristic hallmark of Rhnull phenotype is the lack of all Rh antigens on the RBCs. ![]() Rhnull phenotype (also referred to as Rhnull syndrome or Rhnull disease) is a rare blood group with a reported frequency of approximately 1 in 6 million individuals. It is one of the most polymorphic and immunogenic systems and, next to ABO, is the most clinically significant blood group in transfusion medicine. The Rh blood group system consists of at least 45 independent antigens and was first described in 1939. ![]()
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