Libyan family with beta-thalassemia trait associated with hypercholesterolemia with widespread xanthomas.
We describe a Libyan family with beta-thalassemia trait associated with unusually high concentrations of hemoglobin A2 and hypercholesterolemia. The family consists of the father, mother, and three sons. The marriage was consanguineous. The concentrations of total cholesterol and low-density lipoprotein cholesterol in serum were very high in two sons who also had widespread xanthomas. The erythrocyte membranes showed a high cholesterol/phospholipid ratio, with no significant susceptibility to lipid peroxidation in vitro.
Sheriff
D S
DS
Department of Biochemistry, Al Arab Medical University, Benghazi, Libya.
el Fakhri
M
M
D000328:Adult; D002648:Child; D004910:Erythrocyte Membrane / Q000032:analysis; D005260:Female; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications*; D008297:Male; D013789:Thalassemia / Q000150:complications*; D014973:Xanthomatosis / Q000150:complications*
D006443:Hemoglobin A2