A NEW GENE DELETION INVOLVING THE ALPHA-2-GLOBIN, ALPHA-1-GLOBIN, ANDTHETA-1-GLOBIN GENES IN A BLACK-FAMILY WITH HB H-DISEASE

Citation
Yj. Fei et al., A NEW GENE DELETION INVOLVING THE ALPHA-2-GLOBIN, ALPHA-1-GLOBIN, ANDTHETA-1-GLOBIN GENES IN A BLACK-FAMILY WITH HB H-DISEASE, American journal of hematology, 39(4), 1992, pp. 299-303
Citations number
12
ISSN journal
03618609
Volume
39
Issue
4
Year of publication
1992
Pages
299 - 303
Database
ISI
SICI code
0361-8609(1992)39:4<299:ANGDIT>2.0.ZU;2-#
Abstract
A new deletion of approximately 8.5 kb that includes the alpha-2-, alp ha-1-, and theta-1-globin genes was detected in a father and newborn s on of a black family from Georgia. In the newborn baby the chromosome with the deletion occurred together with a rightward (-alpha-3.7) dele tion chromosome. The resulting Hb H disease was detected at birth by t he high level of Hb Bart's; a moderate anemia with severe microcytosis and hypochromia was present at the age of 5 months. A review of cord blood testing results for a period of over 20 years, involving at leas t 200,000 black newborns, indicated that this baby was the first with a level of Hb Bart's in excess of 10-15%; this underscores the rarity of alpha-thalassemia-1 in this population.