Sabath D E, Detter J C, Tait J F
Department of Laboratory Medicine, University of Washington School of Medicine, Seattle 98195.
Am J Clin Pathol. 1994 Nov;102(5):650-4. doi: 10.1093/ajcp/102.5.650.
alpha-Thalassemia, though one of the most common genetic abnormalities in humans, is uncommon outside of tropical or subtropical regions of the world. The authors describe a family of northern European ancestry with a clinical presentation consistent with alpha-thalassemia-1, or deletion of both alpha globin genes on chromosome 16 in cis. Genomic mapping studies show that the deletion in this family spans 36.5-40 kbp and removes the entire alpha globin locus. This represents a novel deletion causing alpha-thalassemia-1, here termed "--RT." The 5' breakpoint is localized near the 5' breakpoints of previously described deletions in Thai and Filipino persons, consistent with this being an unstable region of chromosome 16.
α地中海贫血虽然是人类最常见的遗传异常之一，但在世界热带或亚热带地区以外并不常见。作者描述了一个具有北欧血统的家族，其临床表现与α地中海贫血-1相符，即16号染色体上两个α珠蛋白基因顺式缺失。基因组图谱研究表明，该家族的缺失跨度为36.5 - 40千碱基对，并去除了整个α珠蛋白基因座。这代表了一种导致α地中海贫血-1的新型缺失，在此称为“--RT”。5'断点位于泰国人和菲律宾人先前描述的缺失的5'断点附近，这与16号染色体的该区域不稳定一致。
