Gurunathan Arun, Tarango Cristina, McGann Patrick T, Niss Omar, Quinn Charles T
Division of Hematology.
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
J Pediatr Hematol Oncol. 2020 Aug;42(6):e494-e496. doi: 10.1097/MPH.0000000000001470.
The thalassemias are genetically complex and usually autosomal recessive. We describe 5 unrelated individuals with non-transfusion-dependent β-thalassemia (NTDT), some with apparently dominant transmission, because of a single β-thalassemia mutation coinherited with a triplicated α-globin locus. Each had an initial, incorrect diagnosis of β-thalassemia trait. The correct diagnosis of NTDT was made at a mean of 7 years of age. Despite reports of this compound genotype causing NTDT, it remains unfamiliar to many clinicians. To increase awareness, we highlight its varied and sometimes subtle clinical and laboratory features and the need for comprehensive genetic testing for timely and correct diagnosis.
地中海贫血在遗传上很复杂，通常为常染色体隐性遗传。我们描述了5名非输血依赖型β地中海贫血（NTDT）的非亲缘个体，其中一些个体表现出明显的显性遗传，原因是单个β地中海贫血突变与一个三倍体α珠蛋白基因座共同遗传。每个人最初都被误诊为β地中海贫血性状。NTDT的正确诊断平均在7岁时做出。尽管有报道称这种复合基因型会导致NTDT，但许多临床医生对此仍不熟悉。为了提高认识，我们强调了其多样且有时微妙的临床和实验室特征，以及进行全面基因检测以实现及时和正确诊断的必要性。
