Alpha-thalassemia in Ashkenazi Jews.
Members of a Jewish family of Polish origin were found to have hypochromic, microcytic erythrocytes. By restriction endonuclease analysis of DNA, the propositus, a brother, and an aunt were found to have a single alpha-globin gene on each chromosome 16. Five family members have one chromosome bearing two alpha-genes (5' and 3') with a single alpha-gene on the homologous chromosome. Gene mapping indicated that the chromosome bearing a single alpha-gene arose via an unequal crossover between misaligned 5' and 3' alpha-genes and was introduced into the family from three separate sources. In addition, a Jewish man of Hungarian origin was found to have alpha-thalassemia trait with single alpha-genes on both chromosomes 16 and a survey of 25 Jewish subjects yielded one man of German origin with an alpha-gene deletion. Alpha-thalassemia should be considered in the differential diagnosis of disease in Jewish persons with microcytic, hypochromic erythrocytes.
D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D003434:Crossing Over, Genetic; D004247:DNA / Q000032:analysis*; D004262:DNA Restriction Enzymes; D015245:Deoxyribonuclease BamHI; D015246:Deoxyribonuclease EcoRI; D005260:Female; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D007585:Jews; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
D006454:Hemoglobins; D004247:DNA; D004262:DNA Restriction Enzymes; D015245:Deoxyribonuclease BamHI; D015246:Deoxyribonuclease EcoRI