Hematological abnormalities and 22q11.2 deletion syndrome

Area of Science:

• Genetics
• Hematology
• Pediatrics

Background:

• 22q11.2 deletion syndrome (22q11DS) presents with diverse clinical features.
• Hematological abnormalities are increasingly recognized in 22q11DS patients.
• The frequency and specific types of these hematological issues require further investigation.

Purpose of the Study:

• To report a case of 22q11DS with thrombocytopenia and large platelets.
• To review the existing literature on hematological alterations in 22q11DS.
• To explore the potential of macrothrombocytopenia as a marker for 22q11DS.

Main Methods:

• Case report of a 13-year-old boy diagnosed with 22q11DS via fluorescent in situ hybridization.
• Review of hematological findings in the patient and relevant literature.
• Analysis of coagulation parameters and platelet aggregation tests.

Main Results:

• The patient presented with craniofacial dysmorphia, speech delay, and hematological alterations including thrombocytopenia and macrothrombocytopenia.
• Despite bleeding symptoms (epistaxis, bruising), standard coagulation and platelet function tests were normal.
• Literature review suggests a link between 22q11DS genetic factors (e.g., GPIb gene deletion) and hematological issues.

Conclusions:

• Hematological alterations are a significant, often underdiagnosed, component of 22q11DS.
• Macrothrombocytopenia is emerging as a potential clinical indicator for 22q11DS.
• Further research is warranted to elucidate the mechanisms and clinical significance of these hematological findings.