Cases reported "Hyperbilirubinemia"

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1/3. Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family.

    We studied a recessive hereditary spherocytosis (HS) family from norway in which all four children had haemolytic spherocytosis while spectrin (Sp) deficiency was detected in the proband. Molecular analysis demonstrated that all affected children had inherited the low expression alpha-Sp allele LEPRA (Low Expressed PRAgue) from the father. Haplotyping with a polymorphic dinucleotide repeat for the alpha-Sp gene (alphaVNTR) located in the 3' untranslated region of mRNA showed that all recessive children had inherited the same maternal alpha-spectrin allele. The paternal Sp-alphaLEPRA allele was found in cis of the polymorphic alpha-Sp Bughill allele (alphaBH) characterized by the A970D point mutation in the Sp alpha-chain. This mutation was identified on two-dimensional electrophoresis of Sp tryptic digests as an acidic shift of the alphaII tryptic domains (spots alphaIIa). Analyses of the relative expression of the paternal alpha-Sp Bughill polymorphism in the proband showed that the product of the maternal alpha-Sp gene is almost completely absent from the mature erythrocyte membrane. Comparative analysis between alphaVNTR PCR-amplified from genomic dna and from cDNA showed that the maternal low expression alpha-Sp allele is associated with a decreased amount of mRNA. Results from molecular and biochemical studies showed that all the affected children of this family are compound heterozygous for two different low expression alpha-Sp alleles: an uncharacterized defective alpha-Sp allele on the maternal side and an alphaLEPRA allele tagged by the alphaIIa polymorphism on the paternal side.
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keywords = spherocytosis
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2/3. Glucuronyl transferase deficiency and mild hereditary spherocytosis: effect of splenectomy.

    In a 6-year-old girl an association of hereditary spherocytosis and a defect in hepatic bilirubin metabolism has been found. The patient suffered from mild compensated haemolytic anaemia and excessive hyperbilirubinaemia (maximum concentration 581 mumol/l), the serum activity of liver enzymes was slightly increased. Examination of the erythrocyte membrane proteins revealed a deficiency of the major membrane skeletal protein, spectrin (about 75% of normal) which is probably the basic genetic defect of hereditary spherocytosis. Examination of the patient's family revealed a recessive mode of inheritance. The concentration of bilirubin conjugates in the patient's serum was decreased due to a reduced UDP-glucuronyl transferase activity found in homogenates of liver tissue. Histological liver examination showed an intrahepatic cholestasis, which is a secondary and reversible alteration resulting from severe hyperbilirubinaemia. After splenectomy, normalization of the increased haemolysis and hepatic dysfunction was observed. The excessive hyperbilirubinaemia can be explained by the association of an increased bilirubin load due to haemolytic anaemia and the diminished hepatic conjugation of bilirubin.
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3/3. Extreme hyperbilirubinemia in a patient with hereditary spherocytosis, Gilbert's syndrome, and obstructive jaundice.

    hyperbilirubinemia may be of several etiologies in the individual patient. An 18-year-old man presented with extreme hyperbilirubinemia (direct bilirubin 23.0 mg/dl, total bilirubin 60.0 mg/dl), hepatosplenomegaly, and anemia. Hematologic studies prelaparotomy documented the presence of hereditary spherocytosis. Intraoperative liver biopsy revealed moderately reduced levels of glucuronyl transferase activity (Gilbert's syndrome). common bile duct obstruction secondary to choledocholithiasis was found, and a cholecystectomy and splenectomy were performed. This case stresses the potential confusion among several diseases which may present with hyperbilirubinemia.
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