Microspherocytosis is known as a hallmark of hereditary spherocytosis (HS) which is one of the most common hemolytic anemias with a prevalence of one per 5000, and is inherited as Mendelian dominant. In this disorder, the patient's red cells become spheroidal, osmotically less resistant in the peripheral circulation, and are selectively trapped in the spleen, but survive normally after splenectomy. The exact mechanism for the formation of microspherocytosis has not been elucidated, although extensive investigations demonstrate that HS red cells are intrinsiclly defective and the patient's spleen does "condition" the metabolically abnormal red cells. The authors report here, one case of severe microspherocytosis in which changes in facial bone structure and transfusion dependency are noted, and an early splenectomy is indicated.
Human ; Infant ; Male ; Spherocytosis, Hereditary/surgery* ; Splenectomy*

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.
Adult ; Alleles ; Ankyrins/metabolism ; Electrophoresis, Polyacrylamide Gel ; Gallstones/surgery ; Gilbert Disease/complications/*diagnosis/genetics ; Glucuronosyltransferase/chemistry/genetics/metabolism ; Heterozygote ; Humans ; Male ; Mutation ; Protein Structure, Tertiary ; Sequence Analysis, DNA ; Spherocytosis, Hereditary/complications/*diagnosis/genetics ; Splenomegaly/diagnosis