Molecular basis of D-negative phenotype (literature review and case reports)

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Abstract

The molecular basis of the D-negative phenotype formation in humans is presented in this article. Causes of true and false D-negative phenotype appearance are described. The basis of true D-negative phenotype are changes in the genome, that lead to complete lack of RhD antigen expression on the red blood cells surface, or defective expression of RhD antigen, not detectable by serological methods. The reason for the false D-negative phenotype is the insufficient sensitivity of routine serological methods. Cases of true and false D-negative phenotype identified during the examination of the Russia residents are described. We were able to identify one case of true (RHDψ) and five cases of false D-negative phenotype (RHD weak type 2 – two cases, RHD weak type 15 – one case and RHD weak type 20 – two cases) by molecular method.

About the authors

L. L. Golovkina

Hematological Research Center, Ministry of Health of Russia

Author for correspondence.
Email: largol@mail.ru
4a Novyy Zykovskiy Pr-d, Moscow, 125167 Russian Federation

A. G. Stremouchova

Hematological Research Center, Ministry of Health of Russia

4a Novyy Zykovskiy Pr-d, Moscow, 125167 Russian Federation

T. D. Pushkina

Hematological Research Center, Ministry of Health of Russia

4a Novyy Zykovskiy Pr-d, Moscow, 125167 Russian Federation

B. B. Khasigova

Hematological Research Center, Ministry of Health of Russia

4a Novyy Zykovskiy Pr-d, Moscow, 125167 Russian Federation

G. V. Atroshchenko

Hematological Research Center, Ministry of Health of Russia

4a Novyy Zykovskiy Pr-d, Moscow, 125167 Russian Federation

M. N. Vasilyeva

Hematological Research Center, Ministry of Health of Russia

4a Novyy Zykovskiy Pr-d, Moscow, 125167 Russian Federation

R. S. Kalandarov

Hematological Research Center, Ministry of Health of Russia

4a Novyy Zykovskiy Pr-d, Moscow, 125167 Russian Federation

E. N. Parovichnikova

Hematological Research Center, Ministry of Health of Russia

4a Novyy Zykovskiy Pr-d, Moscow, 125167 Russian Federation

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