GWEN B. SANCAR, Ph.D.; DAVID B. RAUSHER, M.D.; ROSALIE M. BAINE, Ph.D; OVIDIU PLATICA, M.D.; MARISOL M. CEDENO; ISMAT NAWABI, M.D.; RONALD F. RIEDER, M.D.
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.
SANCAR GB, RAUSHER DB, BAINE RM, et al. Alpha-Thalassemia in Ashkenazi Jews. Ann Intern Med. 1983;98:933–936. doi: https://doi.org/10.7326/0003-4819-98-6-933
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Published: Ann Intern Med. 1983;98(6):933-936.
Hematology/Oncology, Red Cell Disorders.
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