Hydrops Fetalis Associated with Homozygosity for Hb Adana [α59(E8)Gly→Asp (α2)]

We describe cases of hydrops fetalis associated with nondeletional α-thalassemia (α-thal), in three unrelated Indonesian families. The genotypes of the fetuses and their parents were generated by DNA sequencing and by a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP)-based method to rapidly identify mutations detected by sequencing. Two of the fetuses had hydrops fetalis and homozygous α59(E8)Gly→Asp (α2), also known as Hb Adana. The third fetus was also suspected to be homozygous for Hb Adana because both parents were carriers of this mutation. This study shows that homozygosity for Hb Adana is associated with hydrops fetalis in the Indonesian population. We discuss this mutation and its various phenotypes including compound heterozygosity with other α-thal mutations and describe a simple approach to genetic testing that will clarify the risk of hydrops fetalis in the offspring of couples carrying this nondeletional mutation.     

Variable and Often Severe Phenotypic Expression in Patients with the α-Thalassemic Variant Hb Agrinio [α29(B10)Leu→Pro (α2)]

Hb Agrinio [α29(B10)Leu→Pro] is a highly unstable variant, classified as a nondeletional α-thalassemia (α-thal) mutation. To date it has only been described in individuals of Greek and Cypriot origin. Evaluation of the phenotypic presentation of 12 Hb Agrinio homozygotes or compound heterozygotes, diagnosed in a single center in Greece during a 15-year period, found a wide clinical expression, ranging from thalassemia intermedia (with or without transfusion requirement) to Hb H hydrops fetalis, with some phenotype-to-genotype correlation. The often severe clinical presentation of Hb Agrinio homozygotes or Hb Agrinio compound heterozygotes, coinheriting severe α-thal determinants, indicates that molecular identification of carriers of the Hb Agrinio mutation should be considered within the context of screening programs involving individuals of Greek and Cypriot origin. Selective molecular investigation of candidate carriers is facilitated by the observation that all heterozygotes for the Hb Agrinio mutation present with at least one hematological parameter implicating an α-thal carrier state.     

Plasma Fibrinogen Levels in Nigerian Homozygous (Hb SS) Sickle Cell Patients

The plasma fibrinogen levels in 50 Nigerian sickle cell disease (Hb SS) patients in steady state and 50 healthy age and sex-matched (Hb AA) control subjects were determined for the purpose of assessing their baseline values. The fibrinogen levels were assessed using two methods, the clot weight and Clauss, on all the samples for the purpose of comparison. It was observed in this study that the Hb SS patients had significantly higher fibrinogen levels than the healthy Hb AA control subjects, both by the clot weight method (p < 0.001) and the Clauss (p < 0.005). The mean fibrinogen levels (4.1 ± 2.1 g/L) of the Hb SS patients as determined by the clot weight method, were significantly higher than the values (2.2 ± 0.3 g/L) obtained by the Clauss method. The mean values for the two methods were 2.8 ± 0.9 and 2.0 ± 0.08 g/L, respectively, among the control individuals with a statistically significant difference (p < 0.005). Estimation of the plasma fibrinogen levels in sickle cell disease patients might be a useful indicator of hyper coagulability, while early diagnosis may help to prevent vaso-occlusive crises in these patients.     

乙肝酶标增速剂和稳定剂的研制和应用

本文报道乙肝酶标检测中增速剂和稳定剂的研制结果。采用一定浓度化学物质(P_a和S_c)的适当配比制成增速剂稀释被检标本和酶结合物,并建立快速酶标检测法,可使试验中两次免疫学反应在60分钟内(每次30分钟)完成。比同温度下的常规法(每次1.5小时)缩短2/3时间。用快速法检测定值标本和病人血清中的乙肝标志物与常规法比较,无统计学差异,故本增速剂在乙肝酶标诊断中是可以应用的。 用一定浓度牛血清白蛋白和某些稳定酶的化学物质,配制成4种稳定剂,通过对酶结合物的保存观察,选出了稳定剂B较为理想。用该稳定剂保存酶结合物14个月(最长观察期),其活性下降仅为6.1％。     

螺旋藻对缺铁性贫血的恢复实验

选纯种Ｗｉｓｔａｒ大鼠，用低铁饮食法复制缺铁性贫血（ＩＤＡ）模型，之后，用螺旋藻（ＳＰ）进行恢复试验。以硫酸亚铁为阳性对照组，以低铁饲料为阴性对照组，按ＳＰ含量由小到大分为３个实验组即实验１组（含ＳＰ１％）、实验２组（含ＳＰ８％）及实验３组（含ＳＰ１５％）。经过４周的恢复试验，结果：实验２组和实验３组贫血恢复速度最快，其次是实验１组。实验２组和实验３组体重高于阳性对照组，实验１组体重与阳性对照组接近，阳性对照组体重高于阴性对照组。提示：（１）单纯性缺铁可影响大鼠生长，致大鼠体重增长缓慢；（２）螺旋藻似具有加速大鼠体重增长的作用；（３）螺旋藻用于恢复大鼠ＩＤＡ效果显著，而且用量有一个最适宜的范围．     

肿瘤性贫血血清Epo与Hb浓度相关性研究

目的 :了解肿瘤患儿血清促红细胞生成素 ( Epo)水平的变化。方法 :用放射免疫分析法测定 38例急性白血病 ( AL)、1 9例恶性实体瘤患儿及 1 5例健康儿童血清 Epo水平。结果 :1急性淋巴细胞白血病 ( ALL)初治组 39.79± 1 6.2 2 m IU/m L;急性髓性白血病 ( AML)初治组 33.96± 8.1 3m IU/m L,恶性实体瘤组 35 .0 6± 1 8.68m IU/m L;对照组 1 2 .2 3± 3.1 1 m IU/m L。 Epo在 ALL、AML初治组及恶性实体瘤组的水平显著高于正常对照组 ( P<0 .0 5 ) ;2 ALL缓解组 2 1 .63±1 3.2 7m IU/m L,AML缓解组 2 5 .2 2± 5 .46m IU/m L,ALL与 AML缓解组 Epo水平仍高于正常对照组 ( P<0 .0 5 ) ,但均低于初治组 ( P<0 .0 5 ) ;3血清 Epo水平与 Hb呈明显负相关关系 ( P<0 .0 5 )。结论 :肿瘤患儿贫血的产生并非完全由于 Epo水平降低而引起 ,早期红系造血的缺陷是产生贫血的主要原因。     

Hb E/Hb LeporeHollandia in a family from Bangladesh

We describe a family from Bangladesh in which three children are compound heterozy-gotes for Hb E (α₂β₂, β26^{Glu Lys}) and Hb Lepore (δ-β fusion gene). PCR amplification and direct nucleotide sequencing established that the fusion gene is Hb Lepore_Hollandia, with the cross-over localized to a 40 bp window between codon 22 and IVS-1 nt 16 of the δ- and β-globin genes. This unusual combination of mutations is associated with a relatively mild clinical phenotype, with all three affected siblings having microcytic anemia of moderate severity without the need for transfusions. © 1994 Wiley-Liss, Inc.     

Enhanced haemolysis with beta-thalassaemia trait due to the unstable beta chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4.1 deficiency in a Japanese family

We identified a Japanese family with a beta-thalassaemia trait and hereditary elliptocytosis (HE). We studied five members of this family. One was normal, one had only the beta-thalassaemia trait, one had heterozygous HE, and two had compound heterozygous beta-thalassaemia trait and HE. The last two had already undergone splenectomy. The molecular profile of beta-thalassaemia was consistent with that of Hb Gunma: codon 127/128CAGGCT(Gln-Ala)--> CCT(Pro). Analysis of erythrocyte membrane proteins revealed a partial deficiency of protein 4.1 in all those with HE, whereas the spectrin content was within the normal range. Each heterozygous family member with either the beta-thalassaemia trait or HE was asymptomatic, whereas the two with both beta-thalassaemia and HE had marked red blood cell deformities and haemolysis. The abnormalities of the red blood cells in patients with the beta-thalassaemia trait might be enhanced by association with HE owing to a protein 4.1 deficiency.     

Long-term Nucleos(t)ides Analogues for Chronic Hepatitis B Improve Liver and Spleen Size: A Noninvasive Sonographic Study

Background

Histological improvement and regression of liver fibrosis after long-term use of nucleos(t)ides analogues (NUCs) have been documented. The aim of the present investigation was to evaluate the usefulness of traditional sonography to detect hepatic and splenic changes during NUC therapy in chronic hepatitis B (CHB) patients.

Analysis of clinical phenotype and genotype of unstable Hemoglobin Rush北大核心CSCD

Objective To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush)and compound heterozygote of Hb Rush and thalassemia. Methods Peripheral blood samples and genomic DNA fromthree patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin werecollected. Hematological phenotypes of these patients were determined through red blood cell analysis andhemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 Xmn I polymorphic site ofGγ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin genecluster were determined using PCR-based methods and DNA sequencing. Results All patients have presentedhypochromic microcytic anemia and hemoglobin fraction with significant increased measurement (30. 5%-59. 2%) in the region of fetal hemoglobin during alkaline medium electrophoresis. DNA analysis suggested that all patients have carried mutations leading to the unstable hemoglobin Rush (HBB codon 101, GAG>CAG, Glu>Gln). Two ofthem were compound heterozygotes of Hb Rush and thalassemia mutations of-α3.7 ,CD17 and Hb E,respectively. Hb Rush mutation was associated with various haplotypes of the β-globin gene cluster. Nosignificant association was found between increased abnormal hemoglobin fraction in the region of Hb F and thepolymorphism of Gγ promoter or large deletion of the betaglobin gene cluster. Conclusion This study has confirmed the distribution of Hb Rush among various Chinese populations and is the third report of its kind. Hb Rush can result in increased measurement of hemoglobin fraction in the region of fetal hemoglobin (Hb F) during routine hemoglobin electrophoresis under alkaline condition. Hb Rush heterozygote alone can lead to hypochromic microcytic anemia and thalassemia-like phenotype. Prenatal diagnosis of Hb Rush is necessary for carriers.