Andersson B Anders R, Wering Mikaela E L, Luo Hong-Yuan, Basran Raveen K, Steinberg Martin H, Smith Hedy P, Chui David H K
Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MA 02118, USA.
Eur J Haematol. 2007 Jan;78(1):82-5. doi: 10.1111/j.1600-0609.2006.00771.x. Epub 2006 Oct 13.
A young woman originally from Cape Verde islands presented with mild sickle cell disease. Her blood counts and hemoglobin analysis results initially suggested that she might be either homozygous for the sickle cell hemoglobin (Hb S) with concomitant alpha-thalassemia, or compound heterozygous for Hb S and beta0-thalassemia, deletional deltabeta-thalassemia or hereditary persistence of fetal hemoglobin (HPFH). We utilized a novel polymerase chain reaction (PCR)-based screening technique and found a hitherto unrecognized 7.7-kb deletion, starting from the HBB IVSII to 3' downstream of the beta-globin gene. This diagnostic approach can be applied to decipher other similar deletional mutations. This is the second known deletion that removes the 3'-end but preserves the integrity of the 5'-end of the beta-globin gene. Furthermore, the identification of the deletion allows proper genetic counseling for affected families.
一名来自佛得角群岛的年轻女性患有轻度镰状细胞病。她的血细胞计数和血红蛋白分析结果最初表明，她可能是镰状细胞血红蛋白（Hb S）纯合子并伴有α地中海贫血，或者是Hb S与β0地中海贫血、缺失型δβ地中海贫血或胎儿血红蛋白遗传性持续存在（HPFH）的复合杂合子。我们采用了一种基于聚合酶链反应（PCR）的新型筛查技术，发现了一个此前未被识别的7.7 kb缺失，该缺失从HBB内含子II开始，延伸至β珠蛋白基因3'下游。这种诊断方法可用于解读其他类似的缺失突变。这是已知的第二个删除β珠蛋白基因3'末端但保留5'末端完整性的缺失。此外，该缺失的鉴定可为受影响的家庭提供适当的遗传咨询。
