Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA.
Pediatr Blood Cancer. 2013 Oct;60(10):E131-4. doi: 10.1002/pbc.24611. Epub 2013 Jun 15.
Dominant β-thalassemias exhibit a hybrid phenotype of unstable hemoglobin and ineffective erythropoiesis. Most arise from heterozygous β-globin gene mutations in exons 3 or 2 and present in adulthood as thalassemia intermedia. We report a novel, de novo β-globin mutation presenting in a toddler with features of thalassemia major and chromaturia. Hemoglobin Boston-Kuwait is an elongated β-chain variant (163 amino acids) that results from a frameshift mutation caused by a thymidine insertion in codons 139/140. Hematopoietic stem cell transplant provided a successful alternative therapy for this severe form of dominant β-thalassemia.
优势型β地中海贫血表现为不稳定血红蛋白和无效红细胞生成的混合表型。大多数是由于 3 号或 2 号外显子的杂合β珠蛋白基因突变引起的，在成年期表现为中间型地中海贫血。我们报告了一例新的、从头发生的β珠蛋白突变，发生在一个有重型地中海贫血和尿色异常特征的幼儿中。血红蛋白波士顿-科威特是一种延长的β链变体（163 个氨基酸），由 139/140 密码子处的胸腺嘧啶插入引起的移码突变所致。造血干细胞移植为这种严重的显性β地中海贫血提供了一种成功的替代治疗方法。
