Autosomal dominant reticuloendothelial iron overload associated with a 3–base pair deletion in the ferroportin 1 gene(SLC11A3)

Vinod Devalia, Kymberley Carter, Ann P. Walker, +4

Blood

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Pranesh Chakraborty, Klaus Schmitz‐Abe, Erin K. Kennedy, +30

Blood

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Daniel H. Wiseman, Alison May, Stephen Jolles, +16

Blood

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Philip D. Cotter, Alison May, Edward J. Fitzsimons, +5

Journal of Clinical Investigation

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females

Mario Cazzola, Alison May, Gaetano Bergamaschi, +3

Blood

Four New Mutations in the Erythroid-Specific 5-Aminolevulinate Synthase (ALAS2) Gene Causing X-Linked Sideroblastic Anemia: Increased Pyridoxine Responsiveness After Removal of Iron Overload by Phlebotomy and Coinheritance of Hereditary Hemochromatosis

Philip D. Cotter, Alison May, Liping Li, +4

Blood

The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.

Alison May, David F. Bishop

PubMed

Reductive StressInsidious Refractory AnaemiaBiochemistryNatural SciencesGenetics +10

Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload

Anne McCune, Layla N. Al-Jader, Alison May, +3

Human Genetics

Heme HomeostasisGenetic DisorderIron MetabolismGeneticsHeme Degradation +8

X‐linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the <i>ABC7</i> gene predicting V411L

Andrew Maguire, K D Hellier, Simon Hammans, +1

British Journal of Haematology

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Klaus Schmitz‐Abe, Szymon J. Ciesielski, Paul J. Schmidt, +25

Blood