Hemoglobin D "Los Angeles" in an Austrian family: biochemical identification, clinical aspects, and kindred study

During a screening program for gestational diabetes, hemoglobin D "Los Angeles" (beta 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.