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
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.