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Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis.
Br J Haematol
January 2018
Haematology Department, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.
Hum Genet
April 1995
INSERM U409, Association Claude Bernard, Bichat, Beaujon, Paris.
X-linked sideroblastic anemia is a genetic disorder characterized by a hypochromic microcytic anemia of variable intensity with the presence of ring sideroblasts in the bone marrow of the patients. Two different mutations have been reported in the ALAS2 gene in patients with this disease. We have studied a large kindred with a pyridoxine-sensitive form of X-linked sideroblastic anemia.
View Article and Find Full Text PDF[Hemochromatotic cirrhosis complicating pyridoxine-sensitive hereditary sideroblastic anemia. Case report].
Ann Med Interne (Paris)
October 1983
A further case of sporadic congenital sideroblastic anaemia is reported. Despite no contributing factors such as blood transfusion, oral ingestion of iron or alcoholic beverages, were present excessive iron stores occurred with consecutive tissue damage resulting in cirrhosis of the liver, portal hypertension and diabetes mellitus. HLA phenotype was A3 B7 as in primary hemochromatosis.
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