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Journal Articles

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Daniel A. Lichtenstein, Andrew W. Crispin, Anoop K. Sendamarai, Dean R. Campagna, Klaus Schmitz-Abe, Cristovao M. Sousa, Martin D. Kafina, Paul J. Schmidt, Charlotte M. Niemeyer, John Porter, Alison May, Mrinal M. Patnaik, Matthew M. Heeney, Alec Kimmelman, Sylvia S. Bottomley, Barry H. Paw, Kyriacos Markianos, Mark D. Fleming

Blood (2016) 128 (15): 1913–1917.

https://doi.org/10.1182/blood-2016-05-719062

Published: 2016

Includes: Supplemental data

Journal Articles

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

Blood (2015) 126 (25): 2734–2738.

https://doi.org/10.1182/blood-2015-09-659854

Published: 2015

Includes: Supplemental data

Journal Articles

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

Blood (2014) 124 (18): 2867–2871.

https://doi.org/10.1182/blood-2014-08-591370

Published: 2014

Includes: Supplemental data

Journal Articles

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

Blood (2013) 122 (1): 112–123.

https://doi.org/10.1182/blood-2012-08-439083

Published: 2013

Includes: Supplemental data

Journal Articles

Severe Sideroblastic Anaemia in an ALAS2 Compound Heterozygote for −206G, a Common Polymorphism, and a Novel Mutation in Exon 11 (Lys535del) Linked to Lack of Haemoglobinisation In Vitro and Ineffective Erythropoiesis In Vivo.

Alison May, PhD, Carol Barton, FRCPath, Gillian Masters, MA, Jeanne Kingston, BSc, Sue Lawless, MSc, Michael Jenner, MRCPath

Blood (2005) 106 (11): 3541.

https://doi.org/10.1182/blood.V106.11.3541.3541

Published: 2005

Journal Articles

Acquired Sideroblastic Anaemia Unresponsive to Pyridoxine Caused by a Somatic Mutation in ALA Synthase 2.

Alison May, PhD, Ala I. Al-Sabah, MRCPath, Susan L. Lawless, MSc

Blood (2005) 106 (11): 3542.

https://doi.org/10.1182/blood.V106.11.3542.3542

Published: 2005

Journal Articles

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

Soumeya Bekri, Alison May, Philip D. Cotter, Ala I. Al-Sabah, Xiaojun Guo, Gillian S. Masters, David F. Bishop

Blood (2003) 102 (2): 698–704.

https://doi.org/10.1182/blood-2002-06-1623

Published: 2003

Journal Articles

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

Mario Cazzola, Alison May, Gaetano Bergamaschi, Paola Cerani, Sara Ferrillo, David F. Bishop

Blood (2002) 100 (12): 4236–4238.

https://doi.org/10.1182/blood-2002-03-0685

Published: 2002

Journal Articles

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, Stephen J. Perkins, Mark Worwood, Alison May, James S. Dooley

Blood (2002) 100 (2): 695–697.

https://doi.org/10.1182/blood-2001-11-0132

Published: 2002

Journal Articles

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, Paola Cerani, Vittorio Rosti, David F. Bishop

Blood (2000) 96 (13): 4363–4365.

https://doi.org/10.1182/blood.V96.13.4363

Published: 2000

Journal Articles

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, A.I. Al-Sabah, Edward J. Fitzsimons, Mario Cazzola, David F. Bishop

Blood (1999) 93 (5): 1757–1769.

https://doi.org/10.1182/blood.V93.5.1757

Published: 1999

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A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

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

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

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

Severe Sideroblastic Anaemia in an ALAS2 Compound Heterozygote for −206G, a Common Polymorphism, and a Novel Mutation in Exon 11 (Lys535del) Linked to Lack of Haemoglobinisation In Vitro and Ineffective Erythropoiesis In Vivo.

Acquired Sideroblastic Anaemia Unresponsive to Pyridoxine Caused by a Somatic Mutation in ALA Synthase 2.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

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

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

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

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