We analyzed the natural history of idiopathic refractory sideroblastic anemia (IRSA) in 37 patients studied between 1969 and 1986. Although erythroid abnormalities were prominent in all, 12 patients also showed involvement of the granulocytic and/or megakaryocytic cell lines, and nonrandom chromosomal aberrations were observed in five of 23 patients studied for such defects. Measurements of ery...

We report on the cytogenetic findings in a family study of pyridoxine responsive, X linked sideroblastic anaemia. An increase in the number of X chromosomes was observed in a small proportion of metaphases prepared from five female members, but these findings did not strictly correlate with the carrier status of the condition. No consistent cytogenetic abnormality could be identified or associa...

GATA-1, an X-linked gene, encodes a transcription factor that plays a role in erythropoiesis and megakaryopoiesis. GATA-1 mutations have been associated with various diseases, such as X-linked thrombocytopenia. ALAS2 is an X-linked erythroid-specific isoenzyme expressed during erythropoiesis. Mutations of ALAS2 were associated with X-linked sideroblastic anemia. We report a case of newborn twin...

A 72-year-old woman with primary sideroblastic anaemia showed no response to treatment with pyridoxine. When she was given pyridoxal-5-phosphate there was a prompt reticulocyte response and sustained symptomatic improvement with satisfactory control of the anaemia.

Pyruvate kinase deficiency is an inherited metabolic disorder characterized by a deficiency in the enzyme "pyruvate kinase" causing hemolytic anemia. It is more severe in early presentation, and it has no sex predilection. The majority of the cases occur because of genetic mutation while some may be caused by diseases such as leukemia and refractory sideroblastic anemia. PKD presents with sever...

Pyruvate kinase deficiency is an inherited metabolic disorder characterized by a deficiency in the enzyme "pyruvate kinase" causing hemolytic anemia. It is more severe in early presentation, and it has no sex predilection. The majority of the cases occur because of genetic mutation while some may be caused by diseases such as leukemia and refractory sideroblastic anemia. PKD presents with sever...

Pyruvate kinase deficiency is an inherited metabolic disorder characterized by a deficiency in the enzyme "pyruvate kinase" causing hemolytic anemia. It is more severe in early presentation, and it has no sex predilection. The majority of the cases occur because of genetic mutation while some may be caused by diseases such as leukemia and refractory sideroblastic anemia. PKD presents with sever...

Pyruvate kinase deficiency is an inherited metabolic disorder characterized by a deficiency in the enzyme "pyruvate kinase" causing hemolytic anemia. It is more severe in early presentation, and it has no sex predilection. The majority of the cases occur because of genetic mutation while some may be caused by diseases such as leukemia and refractory sideroblastic anemia. PKD presents with sever...