New mutation in the platelet β3‐integrin gene: implication for the diagnosis of fetomaternal alloimmunization

Abstract

Even if such mutations are a rare event, PLT phenotyping is still of interest to avoid rare false PLT typing assignation, the unknown polymorphism being only discovered by such a combination of techniques.

Advances in alloimmune thrombocytopenia laboratory investigations

“…Although genotyping is widely used, unknown genetic variants may alter the results. Investigations for NAIT cases have revealed that silent mutations may induce a false HPA typing and therefore false diagnosis [25]. A discrepancy between genotyping and phenotyping led to find this mutation ( Fig.…”

The 262T>C silent mutation of the platelet β3‐integrin gene is not restricted to a single family

“…Although anti-Jk b is a well-recognized cause of severe acute or delayed hemolytic transfusion reactions, anti-Jk b is rarely associated with severe hemolytic disease of the fetus or newborn (HDFN). [1][2][3][4] The reason why anti-Jk b rarely causes HDFN, even when present in a relatively high titer, is unclear. 5 We would like to share with readers 402 TRANSFUSION Volume 48, February 2008…”

“…We recently described a new mutation in the b3-integrin gene in a pregnant woman, which induced a false-negative HPA-1a typing and, consequently, a false diagnosis. 2 A discrepancy between genotyping and phenotyping for HPA-1 led us to find a 262T>C silent mutation located under the antisense primer we use for PCR-SSP. This mutation, which does not change the amino acid sequence, prevents HPA-1a allele DNA amplification.…”

International Society of Blood Transfusion: The Platelet Immunobiology Working Party

“…Polymerase chain reaction–sequence specific primers (PCR‐SSP) and PCR‐restriction fragment length polymorphism analysis are commonly in use for platelet genotyping. However, a recent publication has shown that silent mutation localized in the PCR primers might lead to discrepancies observed between these two techniques and a false diagnosis might follow [15]. Therefore, in the current workshop DNA with mutations altering the PCR‐SSP technique have been included in order to evaluate the local genotyping method.…”