Lecturer The first affiliated hospital of Guangxi medical university Nanning, Guangxi, China (People's Republic)
Background: Hereditary Glanzmann thrombasthenia (GT) is an autosomal recessive platelet dysfunctional disease caused by platelet glycoprotein Ⅱb/Ⅲa defects, which often result in a lifelong tendency to bleed. We have identified a family with GT and conducted a family survey and genetic diagnosis, uncovering two previously unreported frameshift mutations and missense mutations.
Aims: To study the clinical features and GPⅡb gene mutations of a family with hereditary Glanzmann thrombasthenia (GT).
Methods: Blood platelet counts (BPC), blood film, clot retraction assay, and thrombelastogram were used for phenotype diagnosis. All exons and exon-intron boundaries of the GP Ⅱb/Ⅲa gene were amplified by PCR analysis.
Results: The proband showed normal BPC, defective clot retraction, and significantly reduced MA and Angle value, but increased K value. Compound heterozygous mutations in GPⅡb, 2915dupC Insertion Frame Shift, and C322T were identified in the proband. The father carried the 2915dupC insertion frameshift mutation, and the mother carried the 322C>T nonsense mutation.
Conclusion(s): The compound heterozygous mutations of 2915dupC and 322C>T cause GT in the proband of this family. 2915dupC and 322C>T mutations were reported for the first time in GT patients.
