PDF(Pubmed)
Abstract：
Beta-thalassemia (β-thalassemia) is a hematologic genetic condition that causes microcytic anemia due to defective synthesis of the hemoglobin beta chain. As a hypochromic microcytic anemia that is commonly associated with symptoms such as fatigue and pallor when identified in adulthood, β-thalassemia may be commonly underdiagnosed or misdiagnosed as iron deficiency anemia. This study presents a case of a patient with β-thalassemia who was initially misdiagnosed with treatment-resistant iron deficiency anemia. Here, we present the case of a 66-year-old male of Mediterranean descent with a history of military service who presented with persistent fatigue. He had a past medical history of hypertension, diabetes mellitus type 2, sleep apnea, and iron deficiency anemia. Despite undergoing unnecessarily prolonged iron supplementation for suspected iron deficiency anemia, the patient\'s complete blood count and peripheral blood smear continued to identify hypochromic microcytic anemia. Ultimately, hemoglobin electrophoresis was performed, and mutations were identified in the hemoglobin beta chain consistent with β-thalassemia minor. Due to its rarity and wide variation in presentation, β-thalassemia may be frequently misdiagnosed. β-thalassemia is a spectrum of disorders ranging from β-thalassemia minor, which may be asymptomatic and incidentally discovered in adulthood, to β-thalassemia major, which may include bone marrow deformities from extramedullary hematopoiesis and require frequent blood transfusions to sustain life. Therefore, patients who present with symptoms of β-thalassemia minor may not be identified until later in life after undergoing decades of ineffective treatment. β-thalassemia is a multifactorial disease with a variety of clinical presentations that can easily be misdiagnosed as other types of anemia. This case highlights the importance of performing thorough laboratory testing and casting a wide net of differential diagnoses when evaluating patients with treatment-resistant anemia. This case calls for further research on the genetic contributions to β-thalassemia as well as improved ways to identify this disorder, particularly in patients who may not have a severe form that is easily diagnosed in early childhood.
摘要：
β-地中海贫血（β-地中海贫血）是一种血液学遗传病，由于血红蛋白β链的合成缺陷而导致小细胞性贫血。作为一种低色素性小细胞性贫血，通常与成年期的疲劳和苍白等症状有关，β-地中海贫血常被低估或误诊为缺铁性贫血。这项研究介绍了一例β-地中海贫血患者，该患者最初被误诊为耐药性缺铁性贫血。这里,我们介绍了一例66岁的地中海裔男性，有服兵役史，并表现出持续的疲劳。他有高血压病史,2型糖尿病睡眠呼吸暂停,缺铁性贫血。尽管对疑似缺铁性贫血进行了不必要的长时间补铁，患者的全血细胞计数和外周血涂片继续确定低色素性小细胞性贫血。最终,进行血红蛋白电泳，并且在血红蛋白β链中鉴定出与轻度β-地中海贫血一致的突变。由于它的稀有性和表达的广泛差异，β-地中海贫血常被误诊。β-地中海贫血是一系列疾病，范围从β-地中海贫血，这可能是无症状的，在成年期偶然发现的，严重的β-地中海贫血，这可能包括髓外造血引起的骨髓畸形，需要频繁输血来维持生命。因此,出现轻度β-地中海贫血症状的患者,可能要经过数十年无效治疗后才能在晚年发现.β-地中海贫血是一种多因素疾病，具有多种临床表现，很容易被误诊为其他类型的贫血。该案例强调了在评估难治性贫血患者时进行彻底的实验室测试和广泛的鉴别诊断的重要性。这种情况需要进一步研究β-地中海贫血的遗传贡献，以及改进的方法来识别这种疾病，特别是在儿童早期可能没有很容易诊断的严重形式的患者中。
