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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

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