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, PLATICA O, CEDENO MM, NAWABI I, et al. Alpha-Thalassemia in Ashkenazi Jews. Ann Intern Med. 1983;98:933–936. doi: 10.7326/0003-4819-98-6-933
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Published: Ann Intern Med. 1983;98(6):933-936.
DOI: 10.7326/0003-4819-98-6-933
Hematology/Oncology, Red Cell Disorders.
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