Clinical features

All of these defects are rare to very rare (Table 12.6) and all cause hemolytic anemia with varying degrees of severity. It is not unusual for the presentation to be in the guise of severe neonatal jaundice that may require exchange transfusion; if the anemia is less severe it may present later in life, or it may even remain asymptomatic and be detected incidentally when a blood count is done for unrelated reasons. The spleen is often enlarged. When other systemic manifestations occur, they involve the central nervous system, sometimes entailing severe mental retardation, or the neuromuscular system, or both.

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