Hereditary spherocytosis in a newborn with carrier state parents--a family study.
A four-hour-old male newborn was diagnosed as hereditary spherocytosis by routine blood examination. There was no family history of anemia, jaundice or splenectomy. Osmotic fragility and autohemolysis tests were positive both in patient and parents. However there were no abnormal findings in physical and routine blood examinations of parents and a sibling. Hereditary spherocytosis is rather a difficult diagnostic problem during the neonatal period when there is no family history. The clinical manifestation and unusual genetic carrier pattern in the parents are discussed.
Tsai
Y M
YM
Wang
S Y
SY
Lee
P P
PP
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013103:Spherocytosis, Hereditary / Q000175:diagnosis / Q000235:genetics*