Hemoglobin Hofu or αβ [126 (H4) Val → Glu] Found in Combination with Hemoglobin S

Hb Hofu, αβ[126 (H4) Val → Glu], was found in 10 members of 2 apparently unrelated Valmiki families in central India. None showed evidence of hemolysis and hemoglobin levels were normal in most. In two individuals, Hb Hofu occurred in combination with Hb S, but neither had clinical manifestations of sickle cell disease. In samples containing Hb Hofu, the isopropanol precipitation test was positive. Quantitation of the hemoglobin fractions by DEAE-cellulose chromatography showed that Hb Hofu constituted a mean of 23-25% of the total whether in combination with Hb A or Hb S.     

Hemoglobin Deer Lodge [α2β22(NA2)HIS→ARG] in a Venezuelan Family

The testing program of cord blood samples for hemoglobin (Hb) abnormalities, presently conducted in a few centers of Turkish Universities, sometimes detects rare variants which may or may not affect the health of the newborn. One example to be described here is O-Padova which has been observed once before (1). The variant was detected in the blood of a newborn girl by starch gel electrophoresis at pH 9.0 (2); the mobility of the variant (presumably _α2X_γ) was slightly slower than that of Hb C (or α₂β₂6 Glu→Lys) (Fig. 1). Red cell lysates from the father and a 2-year-old brother contained a different Hb component with a mobility distinctly faster than that of Hb A₂ or of Hb C; a minute quantity of a similar component (presumably α₂^X₂) was also present in the cord blood red cell lysate of Baby E (Fig. 1). The baby was retested when 40 days old; her hematological values and those of her father and brother were normal (Table I). Quantitation by cation exchange high performance liquid chromatography (HPLC) (3) gave total Hb X values of 15.4% for the baby (Hb X + Hb F_x), 18.3% for the father (Hb X + Hb X₂), and 12.8% for the brother (Hb X + Hb X₂) (see also Table I).     

Hemoglobin Suan-Dok (α2109(G16)LEU-ARGβ2). an Unstable Variant Associated with α-Thalassemia

An abnormal hemoglobin variant was detected in a seven-year old Thai girl. The clinical and hematological pictures were indistinguishable from hemoglobin H disease. Upon cellulose acetate electrophoresis at pH 8.5 an abnormal hemoglobin variant was found together with hemoglobins A and H. The variant moved slightly behind HbF and amounted to approximately 9%. Globin chain synthesis studies of peripheral blood reticulocytes incubated with tritiated leucine revealed that the total radioactivity ratio α-chain + variant a-chain/β-chain was 0.59, while the ratio variant α-chain/β-chain was 0.12. The variant hemoglobin was somewhat unstable under heat denaturation and in the isopropanol test. Structural studies by component isolation, globin chain separation, peptide mapping and aminoacid analysis of abnormal peptides showed that the leucine residue 109 of the α-chain was replaced by arginine.     

Hemoglobin Volga, β27 (B9) Ala→Asp: Functional and Clinical Correlations of an Unstable Hemoglobin

Hb Volga (β27 Ala→Asp) on the basis of physical tests is only a mildly unstable hemoglobin yet it is associated with a gross re-ticulocytosis. This is partly explicable by an increased oxygen affinity with a compensating erythrocytosis but there is also brisk hemolysis. It is not certain that this hemolysis is due to precipitation of the hemoglobin as in vitro inclusion body formation is not remarkable and there is no evidence of preferential proteolysis of the abnormal subunits, at least in the reticulocytes. There is increased autoxidation and it may be the consequence of this that is the prime cause of hemolysis.     

HB Melusine [α114(GH2)PRO→SER]: A New Neutral Hemoglobin Variant

Hb Melusine [α114(GH2)Pro→Ser] was found in an Algerian patient during a systematic screening for hemoglobinopathies performed in Luxembourg. The abnormal hemoglobin was suspected when a thickening of the Hb A band was observed by isoelectrofocusing. The mutant hemoglobin was silent in all other electrophoretic methods used for presumptive diagnosis with the exception of globin electrophoresis in the presence of Triton X-100. This technique revealed an α chain considerably more hydrophobic than normal. The structural abnormality of Hb Melusine concerns position α114(GH2) that belongs to a cluster of hydrophobic residues localized in the N-terminal half of the αT-12b tryptic peptide. It has been shown in the case of another variant of that position (Hb Nouakchott), that the replacement of the Pro GH2 by a Leu was responsible for a dramatic increase in the retention time of the a polypeptide chain during reversed phase high performance liquid chromatography, much higher than that reported for similar substitutions in other regions of the hemoglobin molecule.     

Hb Clinico-Madrid [α90(FG2)Lys→Alg]: a New Hemoglobin Mutation in the α2-Globin Gene

High performance liquid chromatography was compared with carboxymethyl cellulose column chromatography data for analysis of globin chain composition and biosynthetic ratios in fetal blood. A formula was derived for mathematical correction for losses of small amounts of globin protein on the high performance liquid chromatography column. Radioactive globin chain ratios by high performance liquid chromatography are equivalent to those by carboxymethyl cellulose column chromatography, but only when carrier Hb A is added. We conclude that high performance liquid chromatography provides a suitable alternative to carboxymethyl cellulose columns, and has several advantages.     

Hemoglobin A2′ (HbA2δ′) in the Mauritanian population: first results of a preliminary survey

The Mauritanian population consists of two main groups: one Arab and Berber population and one of Black African origin. The latter includes five ethnic groups: Pular, Soninke, Black Maurs, Wolof, and Bambara. Abnormal HbA2 was found in the Mauritanian population and was characterized by cellulose acetate electrophoresis at pH 8.4 followed by DNA analysis. Among 785 subjects examined, 17 were carriers of HbA2' corresponding to 2.16 percent. The highest frequency was observed among the Pular (3.09 percent), the Black Maurs (2.72 percent), the Wolof (2.27 percent), and the Soninke (2.04 percent).     

Hb Sichuan [α67(E16)Thr→Ile,HBA2: c.203C>T]: A Novel Hemoglobin Variant That Can Be Detected by Glycated Hemoglobin Electrophoresis

Abstract

We report a novel α2-globin chain hemoglobin (Hb) variant in a 23-year-old female of Chinese Han nationality. The Hb variant can be detected by glycated Hb electrophoresis (CapillaryS2, Hb A_1c program). However, Hb fractions analyzed by capillary electrophoresis (CE) (CapillaryS2, Hb program) and high performance liquid chromatography (HPLC), (VARIANT II? β-Thalassemia Short Program) showed no suspicious Hb variant. Sanger sequencing revealed a novel mutation [α67(E16)Thr→Ile, HBA2: c.203C>T]. We named this novel variant Hb Sichuan after the geographic origin of the proband.     

Hemoglobin J Lome: β59 (E3) Lysine → Asparagine Observed in a Japanese Family

β-Thalassemia is a common disease in Southern China and 10 different mutations or frameshifts are responsible for most types of β-thalassemia in this area. We studied 126 chromosomes of 80 β-thalassemia patients from the Guangxi, Guangdong, and Sichuan Provinces using the polymerase chain reaction followed by dot-blot hybridization with specific oligonucleotide probes. The most common mutation in the three provinces is the frameshift at codons 41-42, followed by the A→T mutation at codon 17. The A→G mutation at nt -29 of the promoter is common in Sichuan but not in the other two provinces. Three mutations (T→C at nt -30; G→T at IVS-I-1, and G→C at IVS-I-5) were not observed. These data were used to initiate a prenatal diagnosis program using the same techniques for identification. Eleven fetuses at risk for β-thalassemia have been diagnosed.     

慢性胃炎脾胃虚实证红细胞游离Ca~(2 )及膜Ca~(2 )-Mg~(2 )-AT Pase研究

目的：从细胞和细胞膜酶分子水平探讨慢性胃炎中医脾胃虚实证病理生理特征。方法：测定１０２ 例慢性胃炎患者和３０ 例正常人红细胞［Ｃａ２＋ ］ｉ、ＡＴＰ含量、膜Ｃａ２＋ －Ｍｇ２＋ －ＡＴＰａｓｅ活性和２４ ｈ 尿１７－羟皮质类固醇排出量。结果：湿热证细胞内外Ｃａ２＋ 转换率加快,膜Ｃａ２＋ －Ｍｇ２＋ －ＡＴＰａｓｅ活性和细胞内ＡＴＰ合成量呈代偿性亢进;脾胃气虚Ｃａ２＋ 转换率有所下降,膜Ｃａ２＋ －Ｍｇ２＋ －ＡＴＰａｓｅ活性明显低于湿热,组织细胞代谢的代偿功能有所降低;脾肾气虚组织细胞代谢功能已完全失代偿,Ｃａ２＋ 在细胞内有明显滞留现象。结论：上述变化与肾上腺皮质功能有密切关系。     

Effects of Cd~( 2),Cu~( 2),Ba~( 2) and Co~( 2) ions on Entamoeba histolytica cysts

AIM:The effects of cobalt,copper,cadmium and bariumions on the cysts of Entamoeba histolyt/ca (E,histolytica),an amebic dysentery agent,cultured in Robinson mediumwere investigated.METHODS:E.histolytica cysts and trophozoites isolatedfrom a patient with amebiasis were cultivated in the medium,incubated at 37℃ for a period of 4 days and 40×10~4/mlamebic cysts were then transferred to a fresh medium.Atthe second stage,0.05,0.1 and 0.2 mM of selected metalions were added to the medium,and the effects of theseions on parasitic reproduction compared with the controlgroup were observed.RESULTS:It was determined that the number of livingparasites in all the groups containing metal ions decreasedsignificantly starting from 30 minutes (P<0.01).CuCl_2 showedthe highest lethal effect on E.histolytica cysts,whereas thelowest lethal effect was observed with CoCl_2.It was alsoseen that the number of living cells was decreased as theion concentration and exposure time were increased,andthat there were no living parasites in the medium at the endof 24 h (P<0.01).CONCLUSION:It may be stated that the effect of ever-increasing contamination of the environment with metalwaste materials on parasites should be investigated further.     

Hb Sallanches [α104(G11)Cys→Tyr,TGC→TAC (α2)]: An Unstable Hemoglobin Variant Found in an Indian Child

We report the fourth observation of Hb Sallanches [α104(G11)Cys→Tyr, TGC→TAC (α2)], an unstable α chain variant of intermediate severity in the homozygous state. Heterozygosity occasionally produces mild hypochromia and microcytosis in some patients. A balanced β/α ratio, found in previously reported cases, points to unstable αβ dimers formed as a result of the Cys→Tyr substitution at the α1β1 contact site in this hemoglobin (Hb) variant. Our patient, and the previous two of the three cases reported in patients of Pakistani origin, points to a common population stock, separated by the mass population migration which occurred during the partition of Pakistan and India in 1947.     

2相折返(146)

正自William于1887年发现并提出心脏电活动的折返现象以来,折返一直是快速性心律失常发生的重要机制。传统观点认为折返的发生均为0相折返,即折返环路上的电传导只能是0相去极化时的电位差,即相邻细胞的去极化传播只能由0相电压差引起。直到1991年,国际著名的心电生理专家Antzelevitch首次证实并提出2相折返的概念。[定义]2相折返是一种功能性折返,是指在缺     

Hemoglobin Karatsu: Beta 120 (GH 3) Lysinc → Asparaine,an Example of Hb Riyadh in Japan

Hemxglobin Karatsu was disoovered in a Japanese male during a random survey of patients. Fingerprints of aminoethylated β chain revealed an hml β Tp12B-13 spot. Further chemical analyses and canparison with the corresponding tryptic pptide from Hb Hijiyama dmnstrated an identical amino acid substitution with Hb Riyadh.     

Bekämpfung-Organisation-Behandlungserfolge (Statistik 2)

Ohne Zusammenfassung     

(2)心力衰竭分子免疫学研究进展

心力衰竭(心衰)的治疗伴随着对心衰病理生理机制认识的深入而发展,从针对水钠潴留的利尿剂,针对血流动力学异常和(或)泵衰竭的扩血管药和(或)强心剂,针对神经-内分泌异常激活的神经激素拮抗剂,推动了心衰的治疗进展。经过大量临床试验证明血管紧张素转换酶(ACE)抑制剂、β肾上腺素能受体阻滞剂(β受体阻滞剂)、醛固酮拮抗剂和血管紧张素受体拮抗剂(ARB)治疗心衰可以降低患者的病死率,改善心衰患者的预后。近年来对心衰与炎症的认识,心衰时神经-内分泌与细胞因子之间的相互作用,拓宽了心衰治疗的新视野。本文就心衰的分子免疫学研究进展做一简要综述。