Biomedical subjects

E Kohne

Publications and source records attributed to E Kohne.

99 records · Page 6Linked to original sources

PubMedDate not supplied

Anaemia in pregnant Ghanaian women: importance of malaria, iron deficiency, and haemoglobinopathies.

In sub-Saharan Africa, anaemia in pregnancy results from multiple causes including malaria, iron deficiency and haemoglobinopathies. In a cross-sectional study among 530 pregnant women in Ghana in November-December 1998, red blood cell indices were analysed with respect to malaria, serum concentrations of ferritin and C-reactive protein (CRP), and the haemoglobin and alpha-globin genotypes. Anaemia (haemoglobin [Hb] < 11 g/dL) was found in 54% of the women; 63% harboured malaria parasites at predominantly low numbers. Ferritin levels were considerably influenced by malaria and inflammatory processes (CRP > 0.6 mg/dL). Depending on the definition applied, the prevalence of iron deficiency ranged between 5% and 46%. The HbAS trait was observed in 14%, HbAC and elevated HbF in 7% each, and sickle cell disease in 1%. Heterozygous beta-thalassaemia was present in 1% of the women and alpha(+)-thalassaemia in 33% (29% heterozygous, 4% homozygous). Women with HbAS had higher malaria parasite densities than those with HbAA. In individuals with highly elevated HbF (> 10%), parasitaemia occurred in 27% only. Low gravidity, second trimester of pregnancy, malaria, raised CRP levels, and homozygous alpha(+)-thalassaemia were independent risk factors for anaemia in multivariate analysis. alpha(+)-Thalassaemia, however, was associated with a lesser degree of malarial anaemia when compared to non-thalassaemic women. Iron deficiency appears not to be a major health problem in this population. Haemoglobinopathies are common but, except for homozygous alpha(+)-thalassaemia, do not substantially contribute to anaemia in pregnancy. alpha(+)-Thalassaemia ameliorates malarial anaemia in pregnant women.

Anemia, Iron-Deficiency↗

PubMedDate not supplied

[Psychosocial aspects of beta-thalassemia: distress, coping and adherence].

BACKGROUND: Longtime outcome in case of thalassemia depends on the patients' adherence in home treatment to reduce hemosiderosis. This study describes the patients' perspective, their typical coping strategies, health related locus-of-control-beliefs and psychosocial influences on adherence. PATIENTS AND METHODS: A battery of questionnaires was employed to 43 patients with thalassemia major (3 to 26 years old) treated in Germany according to the german multicenter study respectively their parents: the Ulm Thalassemia Inventory, the KIDCOPE, the Multidimensional Health Locus of Control Scales and the Giessen Complaint List. Clinical symptoms of hemosiderosis were correlated with psychosocial variables. RESULTS: The patients feel more distressed from their treatment than from their illness itself. They react to disease-related distress with a variety of coping strategies. Some of the most frequent coping strategies are maladaptive, indicating feelings of helplessness. Internal locus-of-control-beliefs were low and fatalistic locus-of-control-beliefs were high compared with other clinical groups. The self-reported adherence to the iron chelation treatment is correlated with age, gender, age at the start-point of the treatment and emotional distress. Complaints, coping strategies and locus of control are independent from adherence as well as from hemosiderosis. CONCLUSION: Patients with thalassemia major need more information about their disease and about the benefits of iron chelation therapy. Additional psychosocial support should reduce emotional distress, strengthen coping competence and lead to a better integration of therapy in daily life.

Adaptation, Psychological↗

PubMedDate not supplied

Congenital erythrocytosis and polycythemia vera in childhood and adolescence.

Polycythemia vera - the most frequent form of a primary erythrocytosis in adult patients - represents an extremely rare disease in pediatric and juvenile patients as do congenital primary and secondary erythrocytoses. Frequently, in patients with these diseases clinical problems do not occur before adulthood. Systematic data on clinical and laboratory evaluations as well as on treatment regimens are sparse. In addition, in the majority of cases with congenital erythrocytosis, the etiology is unknown. For those reasons, a protocol (PV-ERY-KA 03) for the systematic collection of clinical, hematological, biochemical, biological as well as treatment data of children and adolescents with polycythemia vera or congenital erythrocytosis including the hemoglobinopathies with high affinity hemoglobin, familial 2,3-BPG deficiencies, and those of unknown origin, has been developed. These data are combined with molecular analyses which focus initially on EPO-receptor and vHL-gene examination, but will later be extended into presently unexplored pathophysiologic regulatory circuits. In addition, pathophysiologic changes due to the erythrocytosis will be studied. The co-ordinated medical care for patients with those rare diseases within a collaborative trial accompanied by scientific projects is aimed at the improvement of the treatment of these patients as well as to a better understanding of the underlying biological processes.

2,3-Diphosphoglycerate↗

PubMedDate not supplied

[German multicenter thalassemia study. Concept and initial results].

At present more than 300 children and adolescents with Thalassaemia major are living in the FRG. The purpose of this project is--for the first time--to apply a standardized therapy protocol to these patients, to prove its effectivity and study side-effects. The multi-center study started in April 1991. The therapy is based on periodical transfusion of erythrocytes in order to keep haemoglobin (Hb) concentration (= basic Hb-value) above 10.5 g/dl, and daily application of Desferal, 40 mg/kg bw s.c. for iron elimination. Until Nov. 30, 1991 74 patients from 31 different childrens hospitals entered the study. Preliminary results after evaluation of the basic questionnaires can be summarized as follows: 1. The majority of patients if not too old to highly profit from improvement of therapy; 2. In 40.9% of these patients HbF concentration was higher than 15%, which indicates a suboptimal transfusion therapy; 3. At least 30% of patients need intensified iron elimination. Even these preliminary data demonstrate the necessity to improve the therapy of Thalassaemia major in Germany. The goal is to include all affected patients in the study and so optimize long term results concerning quality of life and prognosis.

Adolescent↗

PubMedDate not supplied

[The Munich study on the treatment of acute lymphoblastic leukemia in childhood (ALL 77-02)].

149 children with acute lymphocytic leukemia (ALL) were admitted to a prospective therapeutic regime. Remission induction was achieved by vincristine, daunorubicine, L-asparaginase and prednisone. During consolidation the patients received three intermediate dose methotrexate (MTX) infusions over 24 hours combined with intrathecal MTX, followed by L-asparaginase. High-risk patients were treated in addition with high dose cyclophosphamide and ARA-C over 3 weeks. Standard risk patients received cranial irradiation with 18 Gy, high-risk patients with 24 Gy. Maintenance therapy was performed with 6-mercaptopurine and MTX orally. Immunologic phaenotyping revealed: c-ALL 73%, pre-T or T-ALL 15%, c/T-ALL 4% and undifferentiated leukemia (AUL) 8%. Only 1 patient was nonresponder, 7 patients died during induction therapy, 5 patients during continuous complete remission (CCR). 18 relapses occurred, 12 of which were systemic, 8 CNS and 2 testicular relapses. In the total group the 54 months probability of CCR is 0,68 +/- 0,05 (life-table-analysis), for the reduced group 0,75 +/- 0,05. In the reduced group the probability of CCR at 54 months for standard risk patients is 0,86 +/- 0,06; for high-risk patients 0,60 +/- 0,09; for patients with c-ALL 0,73 +/- 0,08; for patients with c/T-ALL 1,0 +/- 0,0; for patients with pre-T or T-ALL 0,58 +/- 0,2 and for patients with AUL 0,45 +/- 0,25. For the reduced group the CCR probability at 54 months in relation to the leukocytes (WBC) at diagnosis is in patients with WBC less than 25 X 10(3)/mm3: 0,80 +/- 0,06; for patients with WBC greater than 25 X 10(3)/mm3: 0,63 +/- 0,11.

Antineoplastic Combined Chemotherapy Protocols↗

PubMedDate not supplied

[Beta-thalassemia in Germany. Results of cooperative beta-thalassemia study].

At present, about 300 patients with thalassemia major are living in Germany. Starting in 1991, a multicenter study in Germany has concentrated on identifying all patients suffering from thalassemia as well as on establishing a uniform therapy protocol including follow-up diagnostic procedures. After six years of study, the data of 198 patients suffering from thalassaemia major were analysed. The majority of these patients originate from endemic regions around the Mediterranean Sea. The patient's median age is 13.8 years (range 1-37.5 yrs.). At present, about 20% of patients are older than 21 years. Regarding transfusion therapy, a shortening of the average transfusion interval to 3 weeks in most cases occurred. Throughout the entire period, median baseline haemoglobin concentrations of 10.0 g/dl could be observed. The evaluation of serum ferritin levels revealed considerable differences depending on patients age. 60% of patients in the first decade of life showed good therapeutic results with serum ferritin levels below 1800 ng/ml. In contrast, 52% of patients older than ten years presented with ferritin levels above 2500 ng/ml. During the observation, a decreasing number of patients with ferritin levels above 2500 ng/ml was observed in patients aged 15 to 21 years of age. The situation of patients aged 9 to 15 years proved to be more problematic. More than half of all treated patients presented with siderotic complications as cardiac disease in 13%, liver disease in 21%, impaired glucose metabolism in 14%, hypothyroidism in 24% and hypogonadism in 59% of all patients. These values did not change considerably during the observation apart from an increase of cardiac disorders to 20%. Since the situation concerning siderosis and the lack of compliance proved to be particularly difficult in adolescent patients, further efforts has to concentrate on this age group.

Adolescent↗

PubMedDate not supplied

[Beta thalassemia in Germany: molecular genetics and clinical phenotype in immigrant and in the native population].

BACKGROUND: In Germany there are about 300-400 patients with homozygous beta-thalassaemia who immigrated from endemic regions mostly in the Mediterranean. In the non-immigrant population beta-thalassaemia is rare with only single case reports of homozygous patients. Heterozygous beta-thalassaemia, however, is more common and must be considered in the differential diagnosis of hypochromic anemia. PATIENTS AND METHODS: Here, clinical and molecular data of 221 homozygous patients from immigrant families and 256 non-immigrant German heterozygous individuals are presented. RESULTS: Clinically, 87% (n = 192) of the homozygotes are regularly transfused and classified as thalassaemia major (TM). The other 13% (n = 29) are not (regularly) transfused and thus classified as thalassaemia intermedia (TI). There is a wide spectrum of 39 beta-globin gene mutations and even the most common three, IVSI-110G-A, NS 39, and IVSI-6 T-C occur with relatively low frequencies of 28%, 22%, and 9%, respectively. In 17/29 (58%) TI patients "mild" mutations are found that inactivate the affected gene incompletely. In 16/29 (55%) there are mutations that are associated with increased gamma-globin gene activity. alpha-Thalassaemia is rare and only found in 3/29 TI-patients. In the 256 Germans with heterozygous beta-thalassaemia there are 27 different beta-globin gene mutations. The 3 most common are Mediterranean mutations together accounting for 61%. Also-relatively common (5%; n = 13) is an otherwise rare frameshift mutation of codon 83 (FS83 delta G). The other mutations occur in < 10 individuals only. Two mutations described here are novel. One of them affects position-2 of the intron 1 splice acceptor site (IVSI-129 A-G) and the other is a deletion of a single G in codon 15/16 (FS 15/16 delta G). CONCLUSIONS: Taken together, a plausible molecular pathogenesis for the observed phenotype (TM vs. TI) can be identified in most homozygous patients thus allowing for rational counselling of the affected families. In heterozygous Germans beta-thalassaemia has probably been imported from the Mediterranean in about 2/3 of the cases whereas in the remaining 1/3 it has probably originated locally.

Adolescent↗

PubMedDate not supplied

[Treatment of aplastic anemia--aims and development of the SAA 94 pilot protocol].

Aplastic anemia (AA) is a rare, life threatening disease. Allogeneic bone marrow transplantation (BMT) offers the only possibility of cure, i. e. life-long remission. The probability of survival after BMT from an HLA-identical sibling has clearly improved over the last years and at present is about 80% in patients < 16 years. Transplantation from alternative donors, however, faces unsolved immunological problems. For demographic reasons most patients lack a matched sibling donor. For these patients immunosuppressive therapy (IST) is the only alternative therapeutic approach. However this treatment has frequently resulted in clonal, i. e. potentially malignant disease. Overall probability of survival here is only 50%, in severely granulocytopenic patients (< 0.2 G/l) even lower. These individuals represent an important subgroup in pediatric AA. Some patients show only partial reconstitution of their hematopoiesis but satisfactory quality of life. Based on the results of prospective studies a protocol for IST in AA using anti-lymphocyte globulin (ALG), cyclosporin A (CSA) and G-CSF is presented. For BMT-patients likewise a protocol for conditioning (ALG, cyclophosphamide) and GvHD-prophylaxis is suggested. Standardisation and improvement of supportive therapy is the third important objective of this pilot protocol.

Adolescent↗

PubMedDate not supplied

[Correlation between maternal hemoglobin levels and placental morphology and findings in newborn infants].

According to the criteria formulated by the WHO a hemoglobin concentration of 11 g/% represents an anaemia requiring treatment. 28 placentas of patients with hemoglobin concentrations of 7.2 to 10.9 g/% were examined morphometrically to detect possible disturbances of placental development. The patients had all delivered between the 37th and 41st week. Weight, hematocrit and HbA content of the newborn were correlated with the maternal hemoglobin content. There was no influence of maternal hemoglobin concentration on weight and size of the placenta, degree of vascularization and epithelial plates of the terminal villi. In patients with severe anaemia villous areas were smaller and villous vascular areas appeared larger than usual. The ratio of weight of the newborn to weight of the placenta was more commonly decreased in patients with anaemia. In some cases of severe anaemia fetal HbA values were elevated. All newborns with a hematocrit of 50 or more were delivered of mothers with haemoglobin concentrations of 9.5 g/% or less. The weight of all newborns in this study were above the 10th percentile. 7 of 9 newborns with a weight of 3,200 g or less were delivered of patients with a hemoglobin concentration of 9.5 g/% or less. These results indicate that placenta and fetal organ systems are able to compensate for the maternal anaemia without any major complications.

Anemia↗