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Órgano oficial de la Asociación Mexicana de Medicina Transfusional A.C.

2026, Number 1

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Rev Mex Med Transfus 2026; 18 (1)

Phenotypic and molecular identification in the differentiation of the Rh null phenotype in a blood donor

López-Olivares SE, Hernández-Moreno LE, Baptista-González H, Escamilla-Guerrero G, Hernández-Olicón AP, Campos-Aguirre E, Bautista-González D

Language: Spanish
References: 10
Page: 33-37
PDF size: 678.48 Kb.


ABSTRACT

Introduction: the Rh null phenotype is characterized by the absence of Rh system antigens on the erythrocyte membrane. Its most common cause is mutations in the RHAG gene (regulatory type), and less frequently, mutations in RHCE along with RHD deletion (amorphous type). Case presentation: a female donor with a probable Rh null phenotype, without evidence of sensitization. Molecular studies were performed to define the type of Rh null and thus determine the genetic mechanism causing the observed phenotype. Additionally, a family phenotypic study was conducted to identify in heritance patterns. Conclusion: the combination of serological, family, and molecular studies confirms the Rh null phenotype, with the new mutation found in the RHAG gene being the most likely cause of this phenotype, classifying it as regulator type Rh null.


REFERENCES

  1. Walter TO. Manual Técnico. Traducción al español de la 17ª edición de la American Asocciation of Blood Banks. Buenos Aires: Asociacion Argentina de Hemoterapia e Inmunohematología, 17ª ed. 2012.

  2. Xiaoli Z, Xi Q, Hongjun G et al. Rhnull blood group caused by novel base deletion and comprehensive pedigree analysis. Int Immunopharmacol. 2025; 147: 113993.

  3. Vallese F, Kim K, Yen LY et al. Architecture of the human erythrocyte ankyrin-1 complex. Nat Struct Mol Biol. 2022; 29 (7): 706-718.

  4. Hellberg A, Arsenovic MG, Sorvoll IH et al. A novel nonsense variant in RHAG underlies a Nordic Rhnull phenotype. Vox Sang. 2023; 118 (8): 690-694.

  5. Arnoni CP, Muniz JG, Gazito D et al. Novel RHAG allele encoding the Rh(null) phenotype in Brazil. Transfusion. 2015; 55 (10): 2521-2522.

  6. Rosa KA, Reid ME, Lomas-Francis C et al. Rhnull syndrome: identification of a novel mutation in RHce. Transfusion. 2005; 45 (11): 1796-1798.

  7. Silvy M, Beley S, Peyrard T et al. Short duplication within the RHCE gene associated with an in cis deleted RHD causing a Rhnull amorph phenotype in an immunized pregnant woman with anti-Rh29. Transfusion. 2015; 55 (6 Pt 2): 1407-1410.

  8. Petazzi P, Miquel-Serra L, Huertas S et al. ABO gene editing for the conversion of blood type A to universal type O in Rhnull donor-derived human-induced pluripotent stem cells. Clin Transl Med. 2022; 12 (10): e1063.

  9. International Society of Blood Transfusion. 2026.. Available in: https://blooddatabase.isbtweb.org/system/RH

  10. International Society of Blood Transfusion, 2026. Rh-associated glycoprotein [RHAG]. Available in: https://blooddatabase.isbtweb.org/system/RHAG




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