| 1. |
- Kling, S., et al.
(författare)
-
Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome
- 1991
-
Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 47:4, s. 257-261
-
Tidskriftsartikel (refereegranskat)abstract
- The case of a female with moderate haemophilia B is reported. She is the only affected member of her family, and factor IX RFLP analysis shows her to have inherited no maternal markers for polymorphisms located in the first intron and 8 Kb 3' of the polyadenylation signal (DdeI and HhaI, respectively). This clearly indicates a deletion involving at least the last 7 exons of the factor IX gene. Her other factor IX gene inherited from her healthy father is normal as her son is also healthy. This suggests the patient's haemophilia to be due to gross bias in the proportion of factor IX-producing cells with an inactive paternal X chromosome. Methylation studies on the 5' region of the PGK gene show that virtually all the patient's lymphocytes carry a hypermethylated and presumably an inactive paternal X chromosome. The reason for this bias in the activity of her two X chromosomes is not clear, as no chromosomal alterations were found.
|
|
| 2. |
- Kling, S., et al.
(författare)
-
Origin of mutation in sporadic cases of haemophilia-B
- 1992
-
Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 48:3, s. 142-145
-
Tidskriftsartikel (refereegranskat)abstract
- Of the 45 haemophilia-B patients registered at the haemophilia centre in Malmo, Sweden, 24 are the sole members of their families to be affected, and in 13 of these 24 cases, ascendant relatives are available for study. Detection of the gene defect showed the mutation to be de novo in the proband in 3 of these 13 cases, and inherited from a carrier mother in the remaining 10 cases. All 10 carrier mothers were shown to have de novo mutations, as the patients' grandfathers were phenotypically and/or haematologically normal, and the grandmothers were non-carriers. Seven restriction fragment length polymorphisms (RFLPs) of the factor IX gene were used to determine whether the de novo mutations of the 10 carrier mothers were of paternal or maternal origin. In 6/10 cases, the RFLP patterns were informative, and indicated the mutation to be of paternal origin.
|
|
| 3. |
- Kristoffersson, Ulf, et al.
(författare)
-
Deletion of 14q in non‐Hodgkin's lymphoma
- 1990
-
Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 44:4, s. 261-264
-
Tidskriftsartikel (refereegranskat)abstract
- Abstract: 6 patients with non‐Hodgkin's lymphoma [3 with small cell lymphocytic lymphoma of B‐cell type (SL), and 1 each with follicular centroblastic/centrocytic, centroblastic, and immunoblastic lymphoma] and with the acquired cytogenetic abnormalities del(14) (q22) or del(14) (q24) are described. An evaluation of these 6 cases and 41 other lymphatic neoplasms with 14q deletion known from the literature revealed that 37 had a breakpoint in bands q22 to q24. The deletions occur significantly more often in lymphomas of SL morphology and in the leukemic counterpart, chronic lymphocytic leukemia, than in other types of lymphatic malignancies (p< 0.001).
|
|
| 4. |
- Landin, B., et al.
(författare)
-
Haemoglobin Koln as de novo mutations in Sweden : Diagnosis by PCR and specific enzymatic cleavage
- 1994
-
Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 52:3, s. 156-161
-
Tidskriftsartikel (refereegranskat)abstract
- Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all seem to have occurred as de novo mutations. Diagnosis was based on haemoglobin instability testing and isoelectric focusing of haemoglobin dimers. The final identification procedure for the substitutions included extraction of DNA from whole blood, polymerase chain reaction (PCR) amplification of parts of the β-globin gene and nucleotide sequencing of the resulting material, or studies of restriction length polymorphisms (RFLPs) using the restriction endonucleases Mae II or Nla III. The use of PCR-RFLP is recommended as a valuable tool for diagnosing Hb Koln.
|
|
| 5. |
- Monti, M., et al.
(författare)
-
Heat production rate in blood lymphocytes as a prognostic factor in non‐Hodgkin's lymphoma
- 1990
-
Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 45:5, s. 250-254
-
Tidskriftsartikel (refereegranskat)abstract
- Abstract: The heat production rate in peripheral blood lymphocytes was evaluated by direct calorimetry in 76 untreated adults with non‐Hodgkin's lymphoma (NHL). Elevated values were recorded for 20 out of 54 patients with lymphomas of high or intermediate malignancy grade (37%) and for 1 out of 22 patients (5%) with low grade lymphomas (p = 0.01). Median survival was 39 months for patients with normal values and 8.5 months for those with elevated values (p = 0.005). In a subgroup of 38 patients with high or intermediate grade NHL stage III‐IV, 17 patients with abnormally high lymphocyte heat production rates had a significantly shorter survival than 21 patients with normal values (p = 0.01). In a multivariate analysis the prognostic impact of lymphocyte heat production was superior to histologic malignancy grade, clinical stage and age.
|
|
| 6. |
- Sandström, Herbert, et al.
(författare)
-
Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III.
- 1994
-
Ingår i: European Journal of Haematology. - 0902-4441 .- 1600-0609. ; 52:1, s. 42-6
-
Tidskriftsartikel (refereegranskat)abstract
- A family with congenital dyserythropoietic anaemia type III was studied. Twenty patients and 10 of their healthy siblings were clinically examined and questioned about their medical history. Blood sampling and bone marrow aspirations were also performed. Forty-five percent of the patients reported symptoms of anaemia and 35% regularly felt weakness, fatigue, or headache. However, the majority of the patients regarded themselves as healthy. The bone marrow showed a uniform picture of erythroid hyperplasia with multinuclear erythroblasts and gigantoblasts with up to 12 nuclei. There was laboratory evidence of intravascular haemolysis and mild anaemia. We also observed a high prevalence of monoclonal gammopathy of undetermined significance (3 cases) and myeloma (1 case) among the patients.
|
|
| 7. |
- Wickramasinghe, S N, et al.
(författare)
-
Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III
- 1993
-
Ingår i: European Journal of Haematology. - 0902-4441 .- 1600-0609. ; 50, s. 213-221
-
Tidskriftsartikel (refereegranskat)abstract
- Two affected individuals of the Swedish family with CDA, type III, in which the disease is transmitted as an autosomal dominant character, were studied. Both cases displayed features hitherto undescribed in this family but described in patients with CDA, type III, in whom the inheritance may have been as an autosomal recessive character. Such features were: (a) haemosiderinuria, (b) grossly disorganised erythroblast nuclei, (c) differences in the ultrastructural appearances of individual nuclei within the same multinucleate erythroblast and (d) intraerythroblastic inclusions resembling precipitated globin chains. In both cases the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up to 28c (1c = haploid DNA content) and 48c respectively, and some DNA synthesising bi- and multinucleate erythroblasts contained one or more nuclei which were unlabelled with 3H-thymidine. These findings are similar to those in patients with the autosomal recessive type of disease. Thus no major phenotypic differences are yet apparent between cases of CDA, type III, with different patterns of inheritance. Analysis of the surface erythrocyte proteins of the 2 Swedish CDA, type III, patients with monoclonal antibodies recognising Band 3, glycophorins A, B, C and D, Rh, CD44, CD47, CD55, CD58, CD59, Lutheran, Kell, LW and acetylcholinesterase did not reveal any gross abnormality of expression of these proteins. A slightly altered expression of blood group antigens A and H was revealed by the lectins Dolichos biflorus and Ulex europaeus and the Mr of Band 3 as judged by SDS polyacrylamide gel electrophoresis was also slightly reduced, suggesting that there may be minor alterations in the degree of N-glycosylation of some red cell membrane constituents.
|
|
| 8. |
- Heim, Sverre, et al.
(författare)
-
Bone marrow karyotypes in 94 children with acute leukemia
- 1990
-
Ingår i: European Journal of Haematology. - 1600-0609. ; 44:4, s. 227-233
-
Tidskriftsartikel (refereegranskat)abstract
- During the last 10 years, we have cytogenetically analyzed at diagnosis bone marrow cells from a total of 94 children with acute leukemia. Of the 78 children with acute lymphatic leukemia (ALL), 53 (68%) had clonal acquired chromosome abnormalities; in the group with acute nonlymphatic leukemia (ANLL), the corresponding proportion was 13 out of 16 (81%). Among the cytogenetically abnormal ALL patients, the most numerous subset was the hyperdiploid cases with stemlines containing 51 or more chromosomes (26 of 53 abnormal cases; 49%). This is a clearly higher proportion than has been reported in large series from other centers. Deletions of 6q were present in 8 cases and rearrangements of 12p in 5. Of the 7 T-cell ALLs, 3 had translocations of the distal part of 7q, i.e., of the region where the beta T-cell receptor is encoded. Only 2 of 26 (8%) patients with leukemic stemlines with more than 50 chromosomes have relapsed; the remainder are still in first remission (mean observation time 42 months). This may be contrasted with 6 of 25 (24%) relapses among the cytogenetically normal (observation time 41 months), and 8 of 27 (30%) relapses among ALL patients with aberrations but with less than 51 chromosomes (observation time 26 months). Our results support the conclusion that the finding of a markedly hyperdiploid leukemia karyotype is indicative of good prognosis in ALL.
|
|
| 9. |
- Ljung, R., et al.
(författare)
-
Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion
- 1992
-
Ingår i: European Journal of Haematology. - 0902-4441. ; 49:4, s. 215-218
-
Tidskriftsartikel (refereegranskat)abstract
- Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophila Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.
|
|
| 10. |
- Revesz, Peter, et al.
(författare)
-
Measurement of spleen size using gamma camera scintigraphy in essential thrombocythaemia.
- 1993
-
Ingår i: European journal of haematology. - 0902-4441. ; 51:3, s. 141-3
-
Tidskriftsartikel (refereegranskat)abstract
- By using gamma camera imaging the spleen size was determined in 33 consecutive patients with essential thrombocythaemia (ET) and in 33 consecutive patients with reactive thrombocytosis (RT). All ET patients were newly diagnosed and had not received myelosuppressive treatment prior to study; they all fulfilled the criteria for ET as established by the Polycythemia Vera Study Group. In both posterior and lateral projections, the spleen area in the group of ET patients was significantly larger than in the RT patients. The present study has shown that 39% of ET patients at diagnosis have splenic enlargement. Evaluation of spleen size is therefore a useful diagnostic test in patients presenting with unexplained thrombocytosis.
|
|
