X-linked sideroblastic anemia (XLSA) is caused by mutations of the erythroid-specific 6-aminolevulinate synthase gene (ALAS2) resulting in deficient heme synthesis. The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life. Hematologic response to pyridoxine is variable and rarely complete. We report two unrelated cases of highly pyridoxine-...

Transfusion dependent congenital sideroblastic anaemia occurred in infancy in two unrelated girls. One girl developed early organ failure which was not prevented by standard chelation treatment. The combination of modest iron burden and putative intrinsic mitochondrial dysfunction could have accounted for the clinical picture. The other girl remained well, receiving regular transfusion and stan...

Ad (1): All Wve cases had serum creatinine concentrations within the reference limits of our laboratory. Determination of blood urea nitrogen is not a clinical routine in our department. As regards serum transferases, case No. 3 had a slight, transient rise initially [aspartate aminotransferase: 0.88 (upper reference limit 0.60) kat/L; alanine aminotransferase: 1.1 (0.75) kat/L)], while all the...

Microcytosis is typically an incidental finding in asymptomatic patients who received a complete blood count for other reasons. The condition is defined as a mean corpuscular volume of less than 80 µm3 (80 fL) in adults. The most common causes of microcytosis are iron deficiency anemia and thalassemia trait. Other diagnoses to consider include anemia of chronic disease, lead toxicity, and sider...

Lead intoxication results in a disturbance of heme biosynthesis, its degree depending on the severity and duration of exposure to lead. A mild secondary, sideroblastic anemia is common; basophilic stippling may occur, especially in severe lead poisoning. Increased excretion in the urine of delta-aminolevulinic acid and coproporphyrin III may occur; porphobilinogen excretion is not usually incre...

Mucormycosis is an uncommon acute and often fatal opportunistic fungal infection that is classically seen with poorly controlled diabetes mellitus with acidosis, acute leukemia, or other immunosuppressive conditions. A relatively new association of mucormycosis occurring in patients with iron and aluminum excess who receive deferoxamine therapy has been reported with increasing frequency. While...

X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2) gene. Hemizygous males have microcytic anemia and iron overload. A 38-year-old male presented with this phenotype (hemoglobin [Hb] 7.6 g/dL, mean corpuscular volume [MCV] 64 fL, serum ferritin 859 microg/L), and molecular analysis of ALAS2 showed a mutation 1731G>A predic...

Any compendium of facts and factors that can weight or cast doubt on the quantitative significance of serum fernitin measurement as a measure of iron stores is not complete without mention of immunologic nonidentical isofernitins. Liven on spleen fernitin is used as the refenence standard and for the production of antibody, yet there is abundant evidence that the ferritin in serum is immunologi...