Hemoglobin D “Los Angeles” in an Austrian Family: Biochemical Identification, Clinical Aspects, and Kindred Study

Abstract

During a screening program for gestational diabetes, hemoglobin D “Los Angeles” (β 121 Glu→Gln) was detected by HPLC in an overweight but healthy pregnant Austrian woman. The chromatogram of the hemolysate revealed an unusual splitting of the hemoglobin A₁ peak. Sequential analysis of the abnormal peptide indicated hemoglobin D “Los Angeles” heterozygosity in the patient. This is the first description of this variant in Germanic-appearing people. In a kindred study of 49 of the 57 living family members spanning four generations, 22 were heterozygous for hemoglobin D “Los Angeles”. How this gene got to this region of Austria is unknown, but transfer via Iran and Turkey seems likely.