Cattivelli Kim, Campagna Dean R, Schmitz-Abe Klaus, Heeney Matthew M, Yaish Hassan M, Caruso Brown Amy E, Kearney Susan, Walkovich Kelly, Markianos Kyriacos, Fleming Mark D, Neufeld Ellis J
Pediatrics Clinic, University of Brescia, Spedali Civili di Brescia, Italy.
Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts.
Pediatr Blood Cancer. 2017 May;64(5). doi: 10.1002/pbc.26324. Epub 2016 Nov 3.
Symptomatic β-thalassemia is one of the globally most common inherited disorders. The initial clinical presentation is variable. Although common hematological analyses are typically sufficient to diagnose the disease, sometimes the diagnosis can be more challenging. We describe a series of patients with β-thalassemia whose diagnosis was delayed, required bone marrow examination in one affected member of each family, and revealed ringed sideroblasts, highlighting the association of this morphological finding with these disorders. Thus, in the absence of characteristic congenital sideroblastic mutations or causes of acquired sideroblastic anemia, the presence of ringed sideroblasts should raise the suspicion of β-thalassemia.
有症状的β地中海贫血是全球最常见的遗传性疾病之一。其初始临床表现多样。虽然常见的血液学分析通常足以诊断该病,但有时诊断可能更具挑战性。我们描述了一系列β地中海贫血患者,他们的诊断被延迟,每个家庭中有一名患病成员需要进行骨髓检查,结果显示有环形铁粒幼细胞,突出了这一形态学发现与这些疾病的关联。因此,在没有特征性先天性铁粒幼细胞突变或后天性铁粒幼细胞贫血病因的情况下,环形铁粒幼细胞的存在应引起对β地中海贫血的怀疑。