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  • 1
    Electronic Resource
    Electronic Resource
    Hb Tübingen. Eine neueβ-Kettenvariante (β Tp 10–12) mit erhöhter Spontanoxydation (1971)
    Springer
    Journal of molecular medicine 49 (1971), S. 651-658 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bericht über eine neueβ-Kettenvariante in einer in Süddeutschland ansässigen Familie. Von insgesamt sieben eingehend untersuchten Familienmitgliedern konnte die Anomalie in der heterozygoten Form bei zwei Angehörigen (Mutter und Sohn) nachgewiesen werden. Der Erbgang ist autosomal dominant. Das anomale Hämoglobin verursacht bei den Teilträgern infolge erhöhter Spontanoxydation eine Methämoglobinämie mit sichtbarer Cyanose sowie eine leichte kompensierte hämolytische Anämie ohne Innenkörperbildung. Der anomale Blutfarbstoff ist hitzelabil. Ein Enzymdefekt der Erythrocyten einschließlich Diaphorasemangel konnte ausgeschlossen werden. Globinanalysen ergaben einem im core (β Tp 10–12, Aminosäurenposition 83 bis 120) derβ-Kette gelegenen Defekt. Die Anomalie, die mit keiner der bisher bekannten Strukturvarianten übereinstimmt, wurde nach dem Ort des Auffindens als Hb Tübingen bezeichnet.
    Notes: Summary Hemoglobin Tübingen, a newβ-chain variant (β Tp 10–12) was discovered in two members out of seven of a German family. The abnormal hemoglobin is characterized by increased spontaneous oxidation, heat instability, normal methemoglobin spectrum, and the absence of spontaneous Heinz body formation. The carriers suffer from a mild and compensated hemolytic anemia; the main clinical symptom is a mild cyanosis. The amount of abnormal hemoglobin was approximately 40 per cent when DEAE-chromatography was performed with methemoglobin hemolysates; no separation could be achieved using hemolysates in the cyanmethemoglobin form. It was not possible to separate the abnormalβ-chain from normalβ-chain by globin electrophoresis or by chromatography on CM 52. Globin analyses showed a defect located in the core of theβ-chain (β Tp 10–12, amino acid position 83–120). This anomaly which does not correspond to any of the structural variants known so far was named “Hb Tübingen” according to the city in which it was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01492044
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  • 2
    Electronic Resource
    Electronic Resource
    Beziehungen zwischen Polyglobulie und Hämoglobinmuster bei Neugeborenen mit G Trisomie (1975)
    Springer
    Journal of molecular medicine 53 (1975), S. 111-116 
    Details
    ISSN: 1432-1440
    Keywords: Neonatal polycythaemia ; Haemoglobin synthesis ; G-Trisomy ; Neugeborenenpolyglobulie ; Hämoglobinsynthese ; G Trisomie
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei 11 Neugeborenen mit G Trisomie (Down-Syndrom) wurden säulenchromatographisch Hämoglobinanalysen zur exakten quantitativen Bestimmung der Hämoglobine A1, A2 und F durchgeführt. Die Ergebnisse wurden zu den Hämatokritkonzentrationen in Bezichung gesetzt. Neben einer deutlichen Polyglobulie hatten alle Neugeborenen mit G Trisomie signifikant erhöhte Mengen an HbA1 (35,5±6,6%) bzw. HbA2 (0,79±0,32%) im Vergleich zu gesunden Neugeborenen (HbA1=17,74±4,56%, HbA2=0,25±0,2%). Demnach wird der ontogenetische Wechsel in der Synthese von γ-Polypeptidketten zu β- und δ-Ketten beim Down-Syndrom zu einem früheren Zeitpunkt eingeleitet als bei Normalen. Postnatal läuft diese Entwicklung mit entsprechendem Vorsprung weiter. Die stärkere HbA-Synthese bei Kindern mit G Trisomie in der Perinatalperiode steht möglicherweise in direkter Beziehung zur gesteigerten Erythropoese. Demgegenüber scheint die Chromosomenaberration keinen spezifischen Einfluß auf Einleitung und Ablauf der ontogenetischen Ablösung der Hämoglobine zu nehmen.
    Notes: Summary The concentrations of haemoglobin A1, A2 and F were determined quantitatively by column chromatography in 11 newborns with G-trisomy (Down's Syndrome) and correlated to haematocrit values. In 3 infants the haemoglobin pattern was followed throughout the first six months of life. In connection to the well know polycythaemia, newborns with G-trisomy were found to have significantly higher haemoglobin A1 attaining 35.5±6.6% and A2=0.79±0,32% as compared to normal infants (HbA1=17.74±4.56%, HbA2=0.25±0,2%). In G-trisomy the switch-over from synthesis of haemoglobin F to haemoglobin A appears to be initiated earlier than in normal individuals, and it seems even to proceed more rapidly during the first weeks after birth. The amount of adult haemoglobin being synthesized in G-trisomy during the perinatal period may possibly be a response to the increased erythropoiesis, while the influence of chromosomal abnormality seems not to be a specific phenomenon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01466713
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  • 3
    Electronic Resource
    Electronic Resource
    Häufigkeit und Formen von anomalen Hämoglobinen und Thalassämie-Syndromen in der deutschen Bevölkerung (1974)
    Springer
    Journal of molecular medicine 52 (1974), S. 1003-1010 
    Details
    ISSN: 1432-1440
    Keywords: Thalassemia ; abnormal haemoglobins ; german population ; Thalassämie-Syndrome ; Anomale Hämoglobine ; Deutsche Bevölkerung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In einem Zeitraum von 11 Jahren (1963–1973) wurden bei 5763 deutschen Patienten mit unterschiedlichen hämatologischen Erkrankungen Hämoglobinanalysen durchgeführt. Bei 550 Probanden (=9,75%) wurde eine Hämoglobinsynthesestörung nachgewiesen. Thalassämie-Syndrome fanden sich bei 510 Patienten. Darunter waren 7 Patienten mit α-Thalassämie (HbH-Krankheit), 1 Patient mit homozygoter β-Thalassämie und 5 Patienten mit Hb Lepore Varianten, der Rest betraf heterozygote β-Thalassämien. Anomale Hämoglobine fanden sich bei 40 Mitgliedern aus 28 Familien. Die Entdeckung von 2 neuen Familien mit HbM Varianten (HbM Schwerin = HbM Boston und HbM Erlangen = HbM Iwate) zeigt, daß HbM Typen in Deutschland nicht selten vorkommen. Hämoglobin D wurde in 2 Familien aus Lübeck (=HbD Ibadan) und Essen (=HbD Punjab) beobachtet. Hämoglobin E fand sich in 2 Sippen aus Süd-West-Deutschland. Ein schnell wanderndes β-anomales Hämoglobin wurde bei 11 Mitgliedern einer Familie aus Kleve, Niederrhein, entdeckt. Differente instabile Hämoglobine fanden sich bei 8 Familien aus verschiedenen deutschen Regionen. Das Spektrum der hier nachgewiesenen Blutfarbstoffanomalien gibt Anlaß zur Korrektur früherer Vorstellungen, nach denen anomale Hämoglobine in Deutschland eine extreme Rarität darstellen.
    Notes: Summary In the past eleven years 5763 blood samples from German individuals with different hematological disorders have been investigated by means of hemoglobin analysis. Thalssemia syndromes were found in 510 patients. Among this group 7 patients suffered from α-thalassemia hemoglobin H disease and one patient from homozygous β-thalassemia. Hb Lepore variants were detected in 5 patients, the remainder were patients with heterozygous β-thalssaemia. Abnormal hemoglobins were found in 40 members of 28 families. The detection of two new families with HbM, i.e. HbM Schwerin = HbM Boston and HbM Erlangen = HbM Saskatoon gives further evidence that HbM is not infrequent in Germany. Haemoglobin D was observed in two pedigrees from Lübeck (=HbD Ibadan) and Essen (=HbD Punjab.) Hemoglobin E was found in two unrelated kindreds of southwestern Germany. A fast moving β-anomalous-hemoglobin was detected in 11 members of a family from Kleve, Niederrhein. Different unstable hemoglobin variants were observed in 8 families originating from different areas of the western part of Germany. In contrast to previous assumptions our data give evidence that thalassemia syndromes and a veriety of abnormal hemoglobin variants are widely distributed among the German population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01494272
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  • 4
    Electronic Resource
    Electronic Resource
    Haemoglobin D-β-thalassaemia in a German family (1985)
    Springer
    Journal of molecular medicine 63 (1985), S. 613-615 
    Details
    ISSN: 1432-1440
    Keywords: Haemoglobinopathy ; Thalassaemia ; Double heterozygoty
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This report concerns a young woman, whose stained blood films revealed a hypochromic and microcytic red cell morphology. It could be shown by haemoglobin analysis that this atypical blood film was due to a double heterozygote disorder of haemoglobin D (Hb D) andβ-thalassaemia. The thalassaemia trait was inherited from her father and the Hb D from her mother. This is the first observation of this rate disorder in a German family. Comparable cases reported in the literature are mentioned.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01733015
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  • 5
    Electronic Resource
    Electronic Resource
    Knochenmarktransplantation bei Panmyelopathie, akuter Leukämie und chronisch myeloischer Leukämie: Ergebnisse der „Ulmer Transplantationsgruppe“ (1984)
    Springer
    Journal of molecular medicine 62 (1984), S. 577-585 
    Details
    ISSN: 1432-1440
    Keywords: Bone marrow transplantation ; Aplastic anaemia ; Acute leukaemia ; Chronic granulocytic leukaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary From 1972–1983 53 patients underwent bone marrow transplantation. The median age was 18 years (3–41). 27 patients suffered from severe aplastic anaemia, 22 patients had acute leukaemia and 4 patients had chronic granulocytic leukaemia in chronic phase. Out of 22 patients with acute leukaemia, 2 had florid leukaemia, 2 had an early relapse and 18 patients were in first or second remission of their disease. 2/53 patients received a syngeneic transplant, 51/53 patients an allogeneic transplant. 47/51 patients had a HLA-A, B, C-identical, MLC-negative sibling donor, 1/51 had a HLA-A, B-C-identical, MLC-positive sibling donor, 2/51 a HLA-phaenotypical identical parental donor and 1/51 a HLA-identical, MLC-negative unrelated donor. The comparison of the results obtained in patients with severe aplastic anaemia transplanted from 1972–1979 with those transplanted from 1980–1983 shows that the bone marrow transplantation has to be performed in an early stage of the disease before the patients become multiple transfused, sensitized and severely infected and that the conditioning regimen for polytransfused patients has to be more intensive than in untransfused patients. From the patient group transplanted 1972–1979, only 1/14 patients is a long-term survivor in contrast to 8/13 patients transplanted from 1980–1983. 11/22 patients with acute leukaemia are alive between more than 5 years and 14 days after bone marrow transplantation. Only 1/4 patients, who were transplanted not in remission, is alive. For patients with acute leukaemia the bone marrow transplantation should be performed in an early stage of their disease when the tumor burden is small and when the patients are in good clinical condition. 2/4 patients with CGL are alive between 12 months and 3 months after bone marrow transplantation. In our patient group graft versus host disease was the most important problem with a high mortality due to GvHD associated infections.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01728176
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  • 6
    Electronic Resource
    Electronic Resource
    Haemoglobin freiburg: direct detection by synthetic oligonucleotide probes (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 172-174 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The molecular defect leading to Haemoglobin (Hb) Freiburg has been analysed using synthetic oligonucleotides. Oligonucleotide probes 19 residues and 16 residues long, corresponding to the normal and mutant β-globin gene sequences, respectively, were used to develop a direct assay for the βF-globin gene, which codes for an unstable haemoglobin. Under the conditions described here the use of the respective synthetic oligonucleotides should aid in the determination of all Hb Freiburg genotypes in families at risk with a high level of confidence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00280559
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  • 7
    Electronic Resource
    Electronic Resource
    Cyclophosphamide cardiotoxicity (1980)
    Springer
    European journal of pediatrics 134 (1980), S. 87-90 
    Details
    ISSN: 1432-1076
    Keywords: Cyclophosphamide ; Cardiomyopathy ; Bone marrow transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 12-year-old boy with aplastic anemia developed severe but reversible cardiac failure after treatment with 200 mg/kg cyclophosphamide (4×50 mg/kg on four consecutive days) given as preparation for bone marrow grafting. This and previously reported cases demonstrate the possibility of cardiotoxicity after high doses of the drug.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442410
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  • 8
    Electronic Resource
    Electronic Resource
    Silastic catheters for home antibiotic therapy in patients with cystic fibrosis (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 209-211 
    Details
    ISSN: 1432-1076
    Keywords: Key words Cystic fibrosis ; Silastic catheter ; Intravenous antibiotic home therapy ; Pseudomonas aeruginosa infection
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Repeated 14-day courses of intravenous antibiotic therapy for patients with cystic fibrosis (CF), who have been colonized with Pseudomonas aeruginosa (PA), is one currently accepted treatment. Conventional intravenous cannulas for antibiotic delivery often have a short line life leading to frequent venipunctures. Therefore we used silastic catheters as a peripheral venous access. Silastic catheters (15 cm, 0.6 mm diameter) were inserted 10 cm into a cubital vein in 15 patients with CF (age 5–32 years) for 20 antibiotic courses. After the antibiotic infusion the catheter was flushed with 200 U heparin (2 ml Vetren). In all patients the antibiotic therapy was delivered as a home therapy. In 15 antibiotic courses the silastic catheter could be continuously used for 14 days. One patient with methicillin resistant Staphylococcus aureus received antibiotic therapy for 54 consecutive days using the same silastic catheter. The catheter had to be removed in four courses: once because of thrombophlebitis with local inflammation, once because of burning pain during infusion and occlusion twice. In one case the patient removed his catheter because of technical problems. No other serious side effects occurred. Ten patients had previously received intravenous antibiotics at least once. The median line life of the last used conventional peripheral cannula of all patients was 4 days versus 14 days with the use of the silastic catheter (P 〈 0.005). All patients preferred the silastic catheter to other venous access. Conclusion Because of the long line life and easy handling, silastic catheters may be an alternative venous access to perform home antibiotic therapy in patients with CF.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050585
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  • 9
    Electronic Resource
    Electronic Resource
    HbM Erlangen: α2β2 63 (E7) Tyr (1975)
    Springer
    European journal of pediatrics 120 (1975), S. 69-78 
    Details
    ISSN: 1432-1076
    Keywords: Hemoglobin M Erlangen ; Hemolysis ; NADH-methemoglobin reductase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bericht über die Beobachtung einer neuen HbM-Variante bei einem 4jährigen Jungen mit kongenitaler Cyanose. Die Strukturaufklärung ergab Identität mit HbM Saskatoon = β63 His → Tyr. Bei keinem der untersuchten Familienangehörigen war eine Blutfarbstoffanomalie vorhanden, so daß es sich um eine neue Mutation handelt. HbM Erlangen weist eine normale Sauerstofftransportfunktion auf. Es ist kombiniert mit einer kompensierten Hämolyse, die wahrscheinlich durch eine erhöhte Instabilität des abnorm strukturierten Hämoglobins verursacht wird. Gleichzeitig fand sich eine verminderte Aktivität der NADH-Methämoglobinreduktase.
    Notes: Abstract Report on a further hemoglobin M variant, discovered in a boy with congenital cyanosis. Chemical analysis of hemoglobin structure revealed indentity with HbM Saskatoon (= β63 His → Tyr). The abnormal hemoglobin is characterized by normal oxygen transport function. The observed slight constant hemolysis is thought to be due to increased instability of the abnormal hemoglobin molecule. In addition to the hemoglobin anomaly, the activity of NADH-methemoglobin reductase was reduced by approximately 40% of normal. None of the parents presented with an abnormal hemoglobin, indicating that the occurrence of hemoglobin M Erlangen is most likely the result of a new mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443801
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  • 10
    Electronic Resource
    Electronic Resource
    Relation between the degree of initial metabolic decompensation and the duration of the remission phase in type I diabetes mellitus (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 63-66 
    Details
    ISSN: 1432-1076
    Keywords: Diabetes mellitus type I ; Initial metabolic decompensation ; Duration of remission ; HbA1c
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 21 newly diagnosed children with type I diabetes mellitus initial hemoglobin A1c-concentrations, mean insulin requirements during the first 10 days of treatment to recompensate carbohydrate metabolism, duration of glucosuria after diagnosis and duration of remission were determined. Initial hemoglobin A1c-concentration and both mean insulin requirement during the first 10 days of treatment and duration of initial glucosuria showed a highly significant positive correlation. A highly significant, negative correlation was found between the duration of remission and both the mean insulin requirement during the first 10 days of treatment and the duration of initial glucosuria. Thus the present results together with previous findings suggest that the severity of initial metabolic decompensation in diabetes mellitus type I seems to determine at least in part the duration of remission.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442332
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