地中海贫血筛查及其联合试验的临床应用评价

目的：分析红细胞脆性及血红蛋白电泳单项检测及其联合试验在地中海贫血筛查中的临床意义。方法：对经分子生物学方法确诊的96例地中海贫血标本及92例非地中海贫血标本的结果进行统计学分析。结果：红细胞脆性及血红蛋白电泳对诊断地中海贫血的灵敏度和特异度分别为85．39％、81．72％及79．80％、78．95％。红细胞脆性及血红蛋白电泳平行联合试验的灵敏度和特异度分别为97．33％和63．00％,串联联合试验的灵敏度和特异度分别为69．78％和95．75％。结论：在地贫的诊断试验申,红细胞脆性和血红蛋白电泳平行联合试验可提高灵敏度,串列联合试验可提高特异度,联合试验较单项检测具有一定的优越性。     

中西医结合治疗小儿缺铁性贫血44例疗效观察

目的：探讨中西医结合治疗小儿缺铁性贫血的临床疗效。方法：对88例小儿缺铁性贫血患者随机分成两组,治疗组4．4例采用中药＋西药中西医结合治疗,中药为内服异功补血汤。对照组44例,采用单纯的西药治疗。观察比较两组的临床疗效及贫血指标改善情况。结果：治疗组有效率为95．4％,而对照组有效率为52．3％,治疗组的疗效明显优于对照组,P〈0．05,两组相比在统计学上有显著性差异。治疗组贫血实验室指标RBC、Hb、HCT较对照组有显著改善,P（0．05,两组相比在统计学上有显著性差异。结论：中西医结合治疗小儿缺铁性贫血有效率高,贫血的实验室指标RBC、Hb、HCT有显著改善,值得临床推广和应用。     

Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families

We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb Nouakchott. Of the second family we tested, only the proband, a 56-year-old Dutch female was a Hb Nouakchott carrier. Hematological analyses of these cases showed the anomaly behaves as a silent Hb variant without clinical consequences. The Hb variant remained unnoticed using high performance liquid chromatography (HPLC), while an additional peak was detected by capillary electrophoresis (CE). These independent findings of Hb Nouakchott indicate that this Hb variant might not be very rare, but simply remains under diagnosed depending on the Hb separation technique used.     

Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals

We identified two novel δ-globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the δ-globin gene [δ73(E17)Asp→Val, HBD: c.221A>T] which results in a Hb A₂ variant homologous to the β-globin gene variant called Hb Mobile [β73(E17)Asp→Val, HBB: c.221A>T] and we have named this variant Hb A₂-Henan. The other is a nonsense mutation [δ7(A4)Glu→Stop, HBD: c.22G>T] which gives rise to a stop codon (TAG) at codon 7, resulting in δ⁰-thalassemia (δ⁰-thal). The Hb A₂ in one individual with homozygous HBD: c.22G>T was absent.     

Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient

Unstable hemoglobin (Hb) variants are the result of sequence variants in the globin genes causing precipitation of Hb molecules in red blood cells (RBCs). Intracellular inclusions derived from the unstable Hb reduce the life-span of the red cells and may cause hemolytic anemia. Here we describe a patient with a history of hemolytic anemia and low oxygen saturation. She was found to be carrier of a novel unstable Hb variant, Hb Oslo [β42(CD1)Phe→Ile (TTT>ATT), HBB: c.127T>A] located in the heme pocket of the β-globin chain. Three-dimensional modeling suggested that isoleucine at position 42 creates weaker interactions with distal histidine and with the heme itself, which may lead to altered stability and decreased oxygen affinity. At steady state, the patient was in good clinical condition with a Hb concentration of 8.0–9.0?g/dL. During virus infections, the Hb concentration fell and on six occasions during 4 years, the patient needed a blood transfusion.     

Complex Interaction of Hb Q-Thailand with α0- and β0-Thalassemia in a Chinese Family

Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223?G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α^Q-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α⁰-thalassemia (α⁰-thal) and in combination with β⁰-thalassemia (β⁰-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.