Campagnoli et al. (2002) discovered a novel mutation in the albumin gene in an Iraqi male neonate with analbuminemia. The infant presented with low birthweight due to placental infarctions, and mild edema was noted after one week. There was no jaundice and the bilirubin level was normal. Only minute amounts of albumin were detected. Hypercholesterolemia developed in spite of total lipid values within the normal range. At 18 months he was in good general condition, without edema, and had normal weight and length for his age. The parents, who were first cousins, had low albumin concentration values: the father 33 g/l and the mother 27 g/l. SSCP and heteroduplex analysis revealed a G>A substitution at nucleotide 118 in the ALB gene. The mutation, involving the first base of intron 1, destroyed the GT dinucleotide consensus sequence found at the 5-prime end of most intervening sequences and caused defective pre-mRNA splicing. The child was homozygous and both parents were heterozygous. Both parents were found to be heterozygous for this mutation. This mutation was predicted to destroy the GT dinucleotide consensus sequence at the 5' end and cause defective pre-mRNA splicing.

Arnaout (1989) described three patients from three generations of a single family in whom marked hyperthyroxinemia was noted in the absence of any symptoms of hyperthyroidism. All patients showed an increase in albumin binding of labeled thyroxine in vitro, pointing to a diagnosis of familial dysalbuminemic hyperthyroxinemia.