[Unique mutation caused beta-thalassemia in four families on the island of Gotland].

This report briefly reviews mutations known to cause beta-thalassemia in endogenous Swedish families. A unique mutation caused by a 12-bp deletion in exon 3 of the beta-globin gene has been found in four separate families originating from the island of Gotland in the Baltic.

Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes.

Objectives: To critically evaluate whether an altered calcium homeostasis in erythrocytes could be contributing to the symptomatology of the Tarui's disease, which is an inherited phosphofructokinase (PFK) deficiency of the muscle isoenzyme. PFK is a tetrameric enzyme with three different isoenzymes, muscle (M), liver (L), and platelet (P). Erythrocytes contain a 50 : 50 hybrid of M and L type.

Controversies Around Vitamin B12 in Sweden.

Over a five-year period, 1991-1995, the vitamin B12 market in Sweden increased three-fold, from approximately 2 million U.S. dollars to approximately 6 million U.

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

Phosphofructokinase (PFK) plays a major role in glycolysis. Human PFK is composed of three isoenzyme subunits (muscle [Ml, liver [L], and platelet [P]), which are encoded by different genes. Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome.

Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family.

An initiation codon mutation ATG-->ATA of the beta-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a beta zero-thalassemic phenotype. The affected family members all present hematological findings typical for beta-thalassemic trait, with slight anemia, marked microcytosis, and increased levels of Hb A2.

Does a routine operation for intracranial aneurysm incur brain damage?

A biochemical marker of brain cell damage, the BB-isozyme of the intracellular enzyme Creatine Kinase (CK), was used to evaluate any possible injury to the brain, caused by an operation for a ruptured intracranial aneurysm (SAH). CSF-CK BB was assessed before and at intervals after operation in a series of 60 patients, aged 29-71 (mean 51 years) operated on for intracranial aneurysms, all but one after SAH. The m/f ratio was 18/42.

Myelodysplastic syndromes--a population-based study on transformation and survival.

A retrospective analysis was done on 113 patients (median age 73 years) with myelodysplastic syndromes (MDS), consecutively diagnosed at our center during a 10-year period. Patients with refractory anemia (RA) and refractory anemia with ringed sideroblasts (RARS) had significantly longer survival than patients with refractory anemia with excess blasts (RAEB), chronic myelomonocytic leukemia (CMML) or refractory anemia with excess blasts in transformation (RAEB-T). Thirty-seven patients (33%) subsequently developed acute myelogenous leukemia (AML).

Ig-gene and T-cell receptor gene rearrangements in a secondary, mono-histiocytic malignancy.

In 1984, a 21-year-old male was diagnosed with an acute lymphoblastic leukemia of pre-B cell type. Treatment with chemotherapy, including alkylating agents and prophylactic radiotherapy to the central nervous system, induced a complete remission. In June 1990, a biopsy from a supraclavicular node revealed a malignancy of mono-histiocytic type with erythrophagocytosis.

Near-haploidy in childhood leukemia: a high-risk component.

We present a 4-year-old girl with acute lymphocytic leukemia (ALL) and only 25 chromosomes at cytogenetic examination of her bone marrow. Severe hypodiploidy is extremely rare in childhood leukemia and is almost exclusively associated with ALL. To our knowledge only six cases with banded metaphases have been published.

The significance of handmirror cells in acute myelocytic leukaemia type M1 and M2 after weak cytostatic treatment.

The handmirror shape is a cell configuration assumed by mononuclear leucocytes and leucocyte precursors during locomotion. A fraction of fixed tumour cells in bone-marrow smears from patients with acute leukaemia have this handmirror shape. The incidence of handmirror cells has been reported to correlate positively with length of patient survival in some previous studies, but not in others.

Double gammopathies: incidence and clinical course of 20 patients.

The presence of 2 M-components in single patients (double gammopathy) was studied retrospectively by means of the electrophoresis files in Umeå (serving a population of approximately 150 000 inhabitants). During the 11-year period 1974-1984, 109 000 electrophoreses were performed, among which 1034 patients with gammopathy were found. Of these, 20 (2%) had double gammopathy; 3 were associated with lymphoma, 7 with myelomatosis, 9 with monoclonal gammopathy of undetermined significance (MGUS), and 1 with lupus erythematosus disseminatus.

Effects of intensive plasmapheresis on the haemostatic system.

Intensive plasmapheresis was performed on 7 alloimmunized pregnant women. About 60% of the plasma volume was removed each day, Monday to Friday, with pauses over the weekends. This treatment resulted in drops in immunoglobulin levels to about 1/3 of the pre-treatment concentrations, whereas the haemostatic parameters studied remained within normal limits.

Melphalan-related leukemia in multiple myeloma.

Five patients with multiple myeloma ending in acute leukemia are described. The preleukemic phase was characterized by anemia, leukopenia and/or thrombocytopenia. The incidence of acute leukemia in myeloma was calculated to be 6%.

Patient with acute B-cell leukemia of Burkitt's type (L3) and marker chromosomes including an (8;14) translocation.

A 20-year-old man with acute B-cell leukemia of Burkitt's type (L3) presenting unusual début symptoms with jaw involvement is reported. The leukemic cells revealed chromosomal abnormalities including four marker chromosomes [1q+, 6q-, t(8;14)].

Serum fibrinogen/fibrin degradation products in patients with ovarian carcinoma.

Fibrinogen/fibrin degradation products (FDP) in the serum of 50 patients with ovarian carcinoma was examined by Nyléhn's immunochemical method. FDP were rarely found in early but frequently in advanced stages of ovarian tumours. With successful treatment, FDP decreased; otherwise persistently high FDP concentrations were observed in the serum.