Abstract:

In clinical practice, for patients with thrombocytopenia or morphological and functional abnormalities, it is necessary to differentiate between hereditary thrombocytopenia (HT) and acquired (secondary) thrombocytopenia, which is crucial for patient management and the selection of treatment strategies. The symptoms of HT patients are heterogeneous. Based on the inheritance patterns of their gene mutations, including autosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance, patients can be classified accordingly. The diagnosis and classification management of HT remain highly challenging. Although genetic testing is the gold standard for confirming HT, without prior evidence of the patient suspected of having HT, the probability of discovering diagnostic and pathogenic mutations through disease gene testing is much lower. In clinical practice, it is possible to narrow down the suspicion based on positive family history, typical clinical manifestations, laboratory tests, etc., thereby providing a rapid and definitive diagnosis for patients. Understanding the mutated genes and types in HT patients, and analyzing the sources of mutations, can help reveal the pathogenic mechanisms of gene mutations. This further predicts the impact of mutations and facilitates the development of patient-specific treatment and management strategies, as well as genetic counseling for patients.

Key words: Hereditary thrombocytopenia, Autosomal dominant inheritance, Genetic testing