Genetic screening using high‐throughput DNA sequencing may be appropriate for select children with suspected inherited bleeding disorders. A study published in Haemophilia has found that a predefined in silico gene panel in children with a suspected inherited bleeding disorders may be a useful tool for detecting pathogenic variants and direct specific functional testing, especially in children with thrombocytopenia. However, the authors wrote that genetic screening should be used with caution in children.

The researchers examined 30 children and adolescents of European ethnicity (median age: 11.8 years). The cohort had slightly more males (16 of 30) and 30% had thrombocytopenia (9 patients). The most common symptoms were hematoma, epistaxis and heavy menstruation, and 21 of the 30 patients had a positive family history of increased bleeding tendency and/or thrombocytopenia. The researchers detected 68 heterozygous class 3‐5 variants (2.3 variants per patient). The overall diagnostic rate was 16.7% (5 patients). Children with thrombocytopenia had a significantly higher rate of significant genetic findings, 5 out of 9 (55.6%) compared with 0 out of 21 (0%; P =.0009).

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The researchers concluded that performing genetic screening in children is an effective tool especially in children with inherited thrombocytopenia. They theorize it has the potential to diagnose platelet disorders adequately early in life. However, they found that children with bleeding diathesis, normal coagulation work‐up, and without thrombocytopenia were unlikely to be diagnosed through genetic screening.

In this current investigation, 25 patients remained undiagnosed even though they had a clinical presentation of thrombocytopenia or a clinically relevant bleeding score. “Ethical issues such as incidental findings, variants associated with cancer, and the interpretation of the genetic results into clinical practice remain problematic,” the authors concluded.


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Reference Andersson NG, Rossing M, Ferrari MF, et al. Genetic screening of children with suspected inherited bleeding disorders. Haemophilia. doi: 10.1111/hae.13948