Table 1.
Patient | Sex | Ethnicity | Age of Initial Thrombocytopenia | Age at Diagnosis | Bleeding Symptoms | Therapies | Other Findings | Ref. |
---|---|---|---|---|---|---|---|---|
1 | Female | Hispanic | 2 weeks | 8 years | Bruising Mucosal bleeding |
IVIG Steroids Anti-CD20 Immunosuppressants Platelet transfusion Splenectomy Antifibrinolytics OCP+ |
Duplication of alpha globin gene in one allele Missense in the SLFN14 gene, c.652A > G |
|
2 | Male | African American | Birth | 6 years | Bruising Oral mucosal bleeding |
Platelet transfusion Antifibrinolytics |
Maternal thrombocytopenia |
|
3 | Female | Caucasian | 1 year | 19 years | Bruising Bleeding with piercings and dental work Menorrhagia |
Platelet transfusion Splenectomy OCP+ Antifibrinolytics |
None | [14] |
4 | Male | Caucasian | Birth | 2 years | Platelet transfusion | CHD++ Craniosynostosis 4Ydel (11q23.3) |
[15] | |
5 | Female | Caucasian | Birth | 18 months | Subdural hematoma | Platelet transfusion | EGA+++ 29 weeks one of fraternal triplets |
[15] |