大剂量环磷酰胺治疗β地中海贫血合并重型再生障碍性贫血一例报告附文献复习

摘要

Objective To investigate the clinical features and therapeutic method for severe aplastic anemia (SAA) associated with β-thaiassemia,and to improve the recognition of the disease.Methods One patient hospitalized for pancytopenia was reported and the related literatures were reviewed.Results A 14-years old girl who presented with anemia from her childhood was hospitalized for acute onset of pancytopenia.Routine blood test showed that WBC count was 1.28 × 109/L,hemoglobin 65 g/L,platelet count 18 ×109/L,reticulocyte count 2 × 109/L,neutrophil count 0.03 × 109/L and mean corpuscular volume 59.6 fl,respectively.Both bone marrow aspiration and biopsy showed hypoplasia.Her red blood cells presented as microcytic hypochromic and target erythrocytes were common on peripheral blood smear.DNA analysis of the patient and her mother showed exon 17 heterozygous β-thalassemia (c.52 A ＞ T).A diagnosis of SAA associated with β-thalassemia was clarified and high-dose cyclophosphamide (HD-CTX,1.2 g/d × 4 d) plus cyclosporine were offeved,which eventually led to a complete hematologic remission 12 months later.Conclusion This was the first report of SAA associated with β-thalassemia,and the regimen of HD-CTX led to a complete hematologic remission.%目的 分析1例β地中海贫血合并重型再生障碍性贫血(SAA)患者的临床特征及治疗方法,以提高对该类疾病诊治方法的认识.方法 分析1例因全血细胞减少就诊患者的临床资料,并进行相关文献复习.结果 患者,女,14岁,自幼贫血,此次急性起病,血常规检查示WBC 1.28×109/L,HGB 65 g/L,PLT 18×109/L,网织红细胞计数2×109/L,中性粒细胞0.03 × 109/L,红细胞平均体积59.6 fl.骨髓液涂片检查示增生减低,粒系占0.010,红系占0.170,成熟红细胞胞体小,中心淡染区扩大,全片未见巨核细胞,外周血涂片易见靶形红细胞.DNA杂交方法检测β地中海贫血基因显示为17号杂合子(c.52 A＞T).确诊为β地中海贫血合并SAA,给予大剂量环磷酰胺(HD-CTX,1.2 g/d×4d)联合环孢素治疗12个月,患者达完全血液学反应.结论 该例患者为国际上首例报道β地中海贫血合并SAA,经HD-CTX联合环孢素治疗达完全血液学反应.