Table 2 Mortality
Cause of death | Genotype variant* (classification) | Severity of splenomegaly at baseline | Age at ASMD onset (years) | Age group at baseline | Age at death (years) |
|---|---|---|---|---|---|
Splenic vein tear | p.C433R/p.A198P (missense/missense) | Severe | 1 | Pediatric | 14 |
Heart failure, liver failure | p.R610del/p.G247S (deletion/missense) | Severe | 1 | Pediatric | 16 |
Diarrhea, fever/portal hypertension with esophageal varices | p.L105P/p.T544fs*69 (missense/frame shift) | NA | 0 | Pediatric | 17 |
Pneumonia | p.Q294K/p.Q294K (missense/missense) | Severe | 2 | Pediatric | 20 |
Pneumonia | p.L434P/p.L434P (missense/missense) | sx | 1 | Adult | 35 |
Multiple organ failure/infectious disease | p.F482L/p.F482L (missense/missense) | sx | 30 | Adult | 56 |
Liver cancer | p.A198P/p.A198P (missense/missense) | Severe | 9 | Adult | 65 |
Pneumonia | p.L37Wfs*42/p.P186L (missense/frameshift) | sx | 8 | Adult | 71 |
Death from a gun shot | p.R610del/p.R476W (deletion/missense) | Moderate | 1 | Pediatric | 22 |