[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.