SOD2 is an antioxidant protein that protects cells against mitochondrial superoxide. Hematopoietic stem cells (HSCs) lacking SOD2 are capable of rescuing lethally irradiated hosts, but reconstituted animals display a persistent hemolytic anemia characterized by increased oxidative damage to red cells, with morphologic similarity to human “sideroblastic” anemia. We report further characterizatio...

We report on 2 patients with sideroblastic anaemia an secondary iron overload whose presenting symptom was an arthropathy of small an large joints. One patient had marked spinal symptoms which were severe enough to suggest ankylosing spondylitis, and the pattern of arthritis in the other resembled seronegative rheumatoid arthritis. We believe these to be the first cases described of an arthropa...

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A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observed in affected cases. X linked inheritance accounts for the bulk of cases with sideroblastic anaemia. This case highlights the importance of routine...

The erythroid-specific isoform of delta-aminolevulinate synthase (ALAS-E) catalyzes the first step of heme biosynthesis in erythroid cells, and ALAS-E gene mutations are known to be responsible for x-linked sideroblastic anemia. To study the role of ALAS-E in erythroid development, we prepared mouse embryonic stem (ES) cells carrying a disrupted ALAS-E gene and examined the effect of the lack o...

Using standard parasitological, pathological, haematological and sero-biochemical methods, the trypanocidal effect of quinapyramine sulphate/chloride and melarsoprol has been compared in rats experimentally infected with Trypanosoma evansi isolated from a camel. The results indicated that infection in all rats resulted in fulminating parasitaemia (> 10 trypanosomes per mL). One week after treat...