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Alpha-Thalassemia in Ashkenazi Jews

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.; and RONALD F. RIEDER, M.D.
[+] Article and Author Information

Grant support: by grants AM-12401 and AM-07289, National Institutes of Health, and a grant from the New York Community Trust.

Presented in part 10 May 1982 at the Annual Meeting of the Association of American Physicians, Washington, D.C.

▸Requests for reprints should be addressed to Ronald F. Rieder, M.D.; S.U.N.Y.-Downstate Medical Center, 450 Clarkson Avenue; Brooklyn, NY 11203.


Brooklyn, New York; and Atlanta, Georgia


© 1983 American College of PhysiciansAmerican College of Physicians


Ann Intern Med. 1983;98(6):933-936. doi:10.7326/0003-4819-98-6-933
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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.

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