Fei Y J, Liu J C, Walker E L, Huisman T H
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Am J Hematol. 1992 Apr;39(4):299-300. doi: 10.1002/ajh.2830390412.
A new deletion of approximately 8.5 kb that includes the alpha 2-, alpha 1-, and theta 1-globin genes was detected in a father and newborn son of a black family from Georgia. In the newborn baby the chromosome with the deletion occurred together with a rightward (-alpha 3.7) deletion chromosome. The resulting Hb H disease was detected at birth by the 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 least 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.
在一个来自佐治亚州的黑人家庭的父亲和新生儿儿子中，检测到一个约8.5 kb的新缺失，该缺失包括α2-、α1-和θ1-珠蛋白基因。在新生儿中，带有该缺失的染色体与一条向右（-α3.7）缺失染色体同时出现。出生时通过高水平的Hb Bart's检测到由此导致的Hb H病；5个月大时出现中度贫血，伴有严重的小红细胞症和低色素血症。对20多年来至少200,000名黑人新生儿的脐带血检测结果进行回顾发现，这个婴儿是第一个Hb Bart's水平超过10%-15%的；这突出了该人群中α地中海贫血-1的罕见性。
