Pyropoikilocytosis Features
Incidence:
Blacks
Defect:
a-spectrin
defect
Inheritance:
Autosomal
recessive
Clinical findings:
Severe
hemolytic anemia in infancy & early childhood
Abnormal
facial bones
Spectrin
deficiency
Growth
is retarded
Lab findings:
Increased
osmotic fragility – homozygous state
Positive
autohemolysis test – homozygous state
Heat
sensitive cells – 37oC for 6 hours causes problems