科研之友
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摘要
Dominant -thalassemias exhibit a hybrid phenotype of unstable hemoglobin and ineffective erythropoiesis. Most arise from heterozygous -globin gene mutations in exons 3 or 2 and present in adulthood as thalassemia intermedia. We report a novel, de novo -globin mutation presenting in a toddler with features of thalassemia major and chromaturia. Hemoglobin Boston-Kuwait is an elongated -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 -thalassemia. Pediatr Blood Cancer 2013;60:E131-E134.
- 出版日期2013-10
