Unraveling Hematological Anomalies in DiGeorge Syndrome: A Retrospective Study of Thrombocytopenia and Mean Platelet Volume.

backgroundDiGeorge syndrome, arising from chromosome 22q11.2 deletion including the

objectiveThis study investigates the hematological profile of pediatric DiGeorge syndrome patients followed up in Al Qassimi Women's and Children's Hospital, Sharjah, focusing on platelet counts, mean platelet volume, and potential genetic links to GPIBB mutations on chromosome 22q11.2. The aim is to deepen understanding of thrombocytopenia in DiGeorge syndrome and its implications for clinical management.

methodsA retrospective analysis of medical records identified eight pediatric DiGeorge syndrome patients diagnosed through fluorescent in situ hybridization (FISH) and microarray scanning, excluding cases with incomplete records or unrelated comorbidities. Uniform assessment of platelet parameters was conducted across all subjects.

resultsDiGeorge syndrome patients had a mean age of 5.1 years, with four males and four females. The mean number of complete blood counts (CBCs) per patient was 14.25 (range: 6-42). The mean platelet count was 194,295/µL and the mean mean platelet volume (MPV) was 10.8 fL. Thrombocytopenia and large platelets showed notable variability. Four patients had large platelets on 100% of their CBCs, while the lowest was 57%. Two patients had thrombocytopenia in >80% of CBCs, while the rest showed lower rates. One patient presented with immune bicytopenia that responded to immunosuppressive therapy. DISCUSSION: The findings underscore distinct hematological characteristics in DiGeorge syndrome. These insights into platelet abnormalities shed light on potential mechanisms underlying thrombocytopenia in DiGeorge syndrome. Specifically, the observed higher MPV and occasional presence of giant platelets suggest altered platelet production or function, possibly due to haploinsufficiency of gene within the 22q11.2 region, including GPIBB. The study's findings align with previous reports linking DiGeorge syndrome to thrombocytopenia and Bernard-Soulier syndrome features.

conclusionThis study provides insights into hematological manifestations of DiGeorge syndrome, highlighting the role of GPIb-IX-V complex deficiencies. Further research is warranted to elucidate genetic interactions and optimize management strategies for thrombocytopenia in DiGeorge syndrome patients. Future investigations comparing proximal versus distal 22q11.2 deletions and their clinical implications could enhance our understanding.