Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Pediatr Blood Cancer. 2010 Dec 15;55(7):1393-5. doi: 10.1002/pbc.22702.
Unstable hemoglobin variants represent a rare etiology of congenital hemolytic anemia. Without a high index of suspicion, plus proper laboratory testing and interpretation, the correct diagnosis can be elusive. We report on five children who were initially thought to have other congenital disorders such as hereditary spherocytosis or thalassemia, before β-globin gene sequencing led to the definitive diagnosis. Recognizing the variable clinical presentation and laboratory data reported will aid clinicians in diagnosis of unstable hemoglobins variants in children with atypical forms of hemolytic anemia, particularly those with low pulse oximetry values or whose hemoglobin electrophoresis suggest β-thalassemia trait.
不稳定血红蛋白变体是一种罕见的先天性溶血性贫血病因。如果没有高度的怀疑指数，加上适当的实验室检测和解读，正确的诊断可能难以捉摸。我们报告了五例最初被认为患有其他先天性疾病的儿童，如遗传性球形红细胞增多症或地中海贫血，然后进行β-珠蛋白基因突变测序，最终做出明确诊断。认识到不稳定血红蛋白变体在具有非典型溶血性贫血形式的儿童中的可变临床表现和实验室数据，将有助于临床医生诊断，特别是那些脉搏血氧饱和度值低或血红蛋白电泳提示β-地中海贫血特征的儿童。
