A nait‐associated and previously unreported mutation in the ITGB3 gene with a low frequency in the local population

Background Neonatal alloimmune thrombocytopenia is a rare but potentially severe postnatal complication caused by maternal allo‐antibodies against platelet antigens of the newborn. In relatively few cases, immunisation against low‐frequency antigens has been reported. Methods Platelet antigens of a...

Full description

Saved in:
Bibliographic Details
Published in:Transfusion medicine (Oxford, England) England), 2021-08, Vol.31 (4), p.286-291
Main Authors: Norrenbrock, Stefan, Müller, Thomas H., Mayer, Christiane, Doescher, Andrea
Format: Article
Language:English
Subjects:
Antigens, Human Platelet
Blood Platelets
human platelet antigens
Humans
Infant, Newborn
Integrin beta3 - genetics
Isoantibodies
ITGB3
Mutation
neonatal alloimmune thrombocytopenia
Polymorphism, Genetic
Thrombocytopenia, Neonatal Alloimmune - genetics
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background Neonatal alloimmune thrombocytopenia is a rare but potentially severe postnatal complication caused by maternal allo‐antibodies against platelet antigens of the newborn. In relatively few cases, immunisation against low‐frequency antigens has been reported. Methods Platelet antigens of a newborn with severe thrombocytopenia and his family members were investigated by serological and molecular biological methods. A real‐time PCR assay was developed to reliably detect this mutation in pools of DNA from up to seven individuals. Results Serological testing showed positive reactions of maternal plasma with paternal platelets but not with conventional platelet donor panels. Sequencing of the ITGB3 gene revealed a G > A polymorphism in position c.1915 of exon 12 for the father, the newborn and three of four paternal relatives. Screening of samples from a local population of 1575 Caucasian blood donors identified only a single individual with this mutation. Conclusion This finding of a previously unreported private platelet antigen demonstrates that the identification of the target glycoprotein by MAIPA assay followed by sequencing of the affected gene can be combined with an efficient population screening by real‐time PCR with pooling of DNA samples.
ISSN:0958-7578
1365-3148
DOI:10.1111/tme.12769