X-linked sideroblastic anemia - Medicow
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Topic: X-linked sideroblastic anemia


  
 Absence of Mitochondrial Superoxide Dismutase Results in a Murine Hemolytic Anemia Responsive to Therapy with a ...
Absence of Mitochondrial Superoxide Dismutase Results in a Murine Hemolytic Anemia Responsive to Therapy with a Catalytic Antioxidant
Such therapy may prove useful in treatment of human
Absence of Mitochondrial Superoxide Dismutase Results in a Murine Hemolytic Anemia Responsive to Therapy with a Catalytic Antioxidant -- Friedman et al.
http://www.jem.org/cgi/content/full/193/8/925

  
 SIDEROBLASTIC ANEMIAS
Antibody-mediated acquired sideroblastic anemia responsive to cytotoxic therapy.
About 15% of patients with myelodysplasia develop acute leukemia.
After no response to a course of steroid therapy, the child achieved a complete remission with a round of immunosuppressive therapy.
http://sickle.bwh.harvard.edu/sideroblastic.html

  
 Long but informative article on Treatment Strategies
The phase > I/II studies on the use of rHuEpo in MDS have been previously reviewed.
> > Hematopoletic growth factors > > Recombinant human etythropoletin > (rHuEpo) > > Anemia is a major clinical problem in MDS with many patients being adversely > affected by transfusion-dependency and secondary hemochromarosis.
Since aplastic anemia and hypoplastic MDS show many > similarities, it is possible that the latter also respond to immunosuppressive > therapy.
http://aplasticcentral.com/_discussion1/00000035.htm

  
 Iron Disorders Institute Disorders Sideroblastic Anemia Introduction
Cases of hereditary, acquired and idiopathic anemia have responded to pyridoxine therapy.
Myelodysplasic syndromes (MDS) are generally observed in the early pre-leukemic stages of disease.
Leukemia such as acute granulocytic leukemia can develop as a result of acquired sideroblastic anemia.
http://www.irondisorders.org/disorders/sba/index.htm

  
 Myelodysplastic Syndromes -- Greenberg et al. 2002 (1): 136 -- Hematology
human Epo to treat symptomatic anemia in MDS has been well established.
Morphologic examination of a bone marrow aspiration is important
level of marrow blasts and degrees of anemia, peripheral blood
http://www.asheducationbook.org/cgi/content/full/2002/1/136

  
 Anemia, Sideroblastic
When making a physical effort, persons with this disorder may feel angina-like chest pains.
To remove excess iron from the body of persons with Sideroblastic Anemia, the drug desferrioxamine (D.F.) is infused under the skin (subcutaneously) or injected into a muscle (intramuscular), often with good results.
IDIOPATHIC REFRACTORY SIDEROBLASTIC ANEMIA, INCIDENCE AND RISK FACTORS FOR LEUKEMIA TRANSFORMATION: D.S. Chang et al.; Cancer (August 1979: issue 44,2).
http://www.bchealthguide.org/kbase/nord/nord351.htm

  
 sickle (anemia,blood,cancer,cell,children,disease,sickle)
Includes up to date research findings and pain management techniques.
Site includes research findings, pain management techniques, and teaching resources.
Keeping healthy in pregnancy is important, through labour to a new baby
http://www.health-x.com/health-x/sickle.html

  
 Anemia, Hemolytic Anemia, Low Hematocrit, Low Hemoglobin, Low Red Blood Cell Count, Sideroblastic Anemia, Thalassemia
Consult your doctor, practitioner, and/or pharmacist for any health problem and before using any supplements or before making any changes in prescribed medications.
Little DR. Ambulatory management of common forms of anemia.
Refer to the individual supplement for information about any side effects or interactions.
http://truestarhealth.com/Notes/3562008.html

  
 classifications
Classifications for both MDS and sideroblastic anemias are not definitive, as is clear from the overlap in discussing the two conditions.
CMML is associated with anemia, a high percent of blasts, and a high level of monocytes in the blood and bone marrow.
Acquired irreversible sideroblastic anemias may result from MDS, leukemias, or from myeloproliferative disorders.
http://www.duckandcats.com/classify.htm

  
 Cloning and Characterization of Human Adenosine 5'-triphosphate-binding Cassette, Sub-family A, Transporter 2 (ABCA2) ...
are responsible for X-linked sideroblastic anemia and ataxia
linked ABCA2 expression with resistance to this drug in an ovarian
antigen processing (ABCB2 and ABCB3), has been linked to different
http://cancerres.aacrjournals.org/cgi/content/full/61/8/3339

  
 XLSA_WEBPAGE.html
Defects in the heme synthesis pathway lead to many human disorders.
Another treatment for alleviating the iron overload in patients is phlebotomy (bleeding).
This treatment alleviates iron toxicity but does nothing for the anemia the patient is suffering from.
http://www.bio.davidson.edu/../../people/kabernd/seminar/Studfold/JRK/XLSA_WEBPAGE.html

  
 X-linked sideroblastic anemia - Genetics Home Reference
This condition is inherited in an X-linked recessive pattern.
Patient support - For patients and families (2 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
http://www.ghr.nlm.nih.gov/ghr/disease/xlinkedsideroblasticanemia

  
 Anemia Health Search - Medical Dictionary Search Engines
Genetics Home Reference: X-linked sideroblastic anemia (National Library of Medicine)
Acquired Aplastic Anemia: Basic Explanations (Aplastic Anemia and MDS International Foundation)
Anemia Health Search - Medical Dictionary Search Engines
http://medical-dictionary-search-engines.com/health/?health_name_url=68&level=2

  
 Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder -- Pagon et al. 22 (4): 267 -- Journal of ...
sideroblasts on bone marrow examination, a dimorphic peripheral blood
X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?
families suggests that they are either two closely linked loci which have
http://jmg.bmjjournals.com/cgi/content/abstract/22/4/267

  
 A Mutation of the Mitochondrial ABC Transporter Sta1 Leads to Dwarfism and Chlorosis in the Arabidopsis Mutant starik ...
pathway, which is linked to the intracellular iron homeostasis
Taken together, our results suggest that plant mitochondria
The human ABC7 gene has been implicated in hereditary
http://www.plantcell.org/cgi/content/full/13/1/89

  
 [No title]
Case report : We observed a child, male, aged 15 months, affected by severe microcytic anemia (mean Hb values 8 gr/dl), with sideroblasts on bone marrow examination, high ferritin levels, ataxia and low immunoglobulins levels.
The four groups were compared by Kruskal-Wallis test.
No defects we found by familiar examination, but in the father we tested high ferritin levels.
http://www.ospedalecivicopa.org/thalassemia/abstract.doc

  
 High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance ...
In a study of 20 patients with sideroblastic anemia, 3 patients
all elderly patients with microcytic sideroblastic anemia as
Chinese man with the pyridoxine-responsive form of XLSA ( 56).
http://www.ajcn.org/cgi/content/full/75/4/616

  
 Porphyria - Wikipedia, the free encyclopedia
It can be treated with medicines to relieve symptoms, a drug called hemin (which is like heme), or a
These fancies are based on a misunderstanding of the nature of porphyria.
X-linked sideroblastic anemia (XLSA): a deficiency in ALA synthase
http://en.wikipedia.org/wiki/Porphyria

  
 Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload -- Nakajima et al. 18 ...
human ALAS-E causes the disorder X-linked sideroblastic anemia.
erythroid cells of XLSA patients or in chimeric mice derived from
analyses, ring sideroblasts in XLSA patients were shown to accumulate
http://embojournal.npgjournals.com/cgi/content/full/18/22/6282

  
 The Human ATP-Binding Cassette (ABC) Transporter Superfamily -- Dean et al. 11 (7): 1156 -- Genome Research
in ABCB7 are associated with the X-linked sideroblastic anemia
and bile transport defects, anemia, and drug response.
have been linked to disorders displaying Mendelian inheritance
http://www.genome.org/cgi/content/full/11/7/1156

  
 Pathology
Acquired sideroblastic anemia is often the earliest evidence of a myelodysplastic syndrome (MDS) - refractory anemia with ringed sideroblasts.
Blood transfusions may be necessary because of the ineffective erythropoiesis of sideroblastic anemia.
Hereditary sideroblastic anemia often responds to pyridoxine (Vitamin B6) therapy, but the acquired form rarely responds.
http://www.med-ed.virginia.edu/courses/path/innes/rcd/side.cfm

  
 IXDB: All objects of type GENE
nudix (nucleoside diphosphate linked moiety X)-type motif 10
nudix (nucleoside diphosphate linked moiety X)-type motif 11
X-linked sideroblastic anemia and ataxia (XLSA/A) ATP-binding cassette, sub-family D (ALD), member 1
http://ixdb.mpimg-berlin-dahlem.mpg.de/GENE.html

  
 01I: Housekeeping delta-Aminolevulinic Acid Synthase: Sideroblastic Anemia
In a study of 20 patients with sideroblastic anemia, three patients showed low ALAS activity that was corrected to normal by PLP in vitro, and two other patients were found to be responsive to pyridoxine (20 mg/day).
This defect could also be in ALAS1 or ALAS2.
When one of these 2 patients was taken off pyridoxine, ALAS activity, as measured in bone marrow, fell markedly unless PLP was added in vitro.
http://www.kmmutants.org/01I.php

  
 Browse Conditions - Genetics Home Reference
Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia
APC resistance, Leiden type see factor V Leiden thrombophilia
http://ghr.nlm.nih.gov/ghr/conditionsByName;jsessionid=0C68D3945E2507EB1C247C5ED1E7D14C

  
 Microcytic hypochromic Anemia
For iron deficiency anemia of unknown cause, same treatment applies, but patients should be evaluated for source of bleeding:
Twice a day is often sufficient, but it may take longer to correct the anemia.
* See below about some points about iron deficiency anemia
http://enotes.tripod.com/anemia-microcytic.htm

  
 Physical and Genetic Mapping of the Human X Chromosome Centromere: Repression of Recombination -- Mahtani and Willard 8 ...
We have constructed a long-range physical map of centromeric
X chromosome: Genetic framework for mapping X-linked disorders.
and suggestion of at least two loci for X-linked sideroblastic
http://www.genome.org/cgi/content/full/8/2/100

  
 X-Chromosome inactivation in healthy females: incidence of excessive lyonization with age and comparison of assays ...
The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated.
A novel clonality assay based on transcriptional analysis of the active X-chromosome.
Tsukamoto N, Morita K, Maehara T, Okamoto K, Sakai H. Clonality in chronic myeloproliferative disorders defined by X-chromosome linked probes: demonstration of heterogeneity in lineage involvement.
http://www.clinchem.org/cgi/content/full/44/1/61

  
 NEJM -- X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr388-to-Ser Substitution in Erythroid ...
This article has been cited by other articles:
relapse of the anemia; the enzyme activity expressed in the
X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr
http://content.nejm.org/cgi/content/short/330/10/675

  
 Genetics of Iron Storage and Hemochromatosis -- Beutler et al. 29 (4): 495 -- Drug Metabolism and Disposition
Genetic disorders that are associated with increased iron storage (secondary hemochromatosis)
Lenzner C, Nürnberg P, Jacobasch G, Gerth C and Thiele BJ (1997) Molecular analysis of 29 pyruvate kinase-deficient patients from Central Europe with hereditary hemolytic anemia.
not only in anemia, but also in the depletion of many iron enzymes
http://www.dmd.org/cgi/content/full/29/4/495

  
 viewANDmorbid
Hemolytic anemia due to PGK deficiency (3); Myoglobinuria/hemolysis
http://www.2beornot2be.com/Chromosomes/genetics/chromoxy.htm

  
 Chromosome connection
Using NCBI's morbid map, I found seventeen more genes on chromosome Xq13 to be involved in other diseases, such as leukemia, mental retardation, dystonia, spinocerebellar ataxia, and sideroblastic anemia (Figure 2).
Other genes involved in diseases on chromosome X
This means that the gene is located on the longer arm (q) of chromosome X in region 13.
http://fog.ccsf.cc.ca.us/~cpogge/disease/Online/Melanoma/chromosome.html

  
 [No title]
The ALAS2 gene product catalyzes the first step in the heme biosynthetic pathway.
A second delta-aminolevulinate synthase gene (ALAS1)is located on chromosome 3 and is expressed in all tissues.
A defective ALAS2 gene causes X-linked pyridoxine-responsive sideroblastic anemia (Hypochromic Anemia).
http://www.ohsu.edu/gmsr/smc/downloads/SMChumC8400B.txt

  
 A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. Rapid scanning of myotubularin ...
LaxaColon herbal formula for constipation relief, colon cleansing, and weight loss
BACKGROUND: Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA).
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
http://www.its.caltech.edu/~ung/ref-sequencing/sequencing-research-abs4.435.html

  
 Alleles & P-elements
"Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (1)"
"Hemolytic anemia due to glutathione reductase deficiency (1)"
"Hemolytic anemia due to ADA excess (1) Severe combined immunodeficiency due to ADA deficiency (3)"
http://www.sdsc.edu/mpr/homophila/allele2.html

  
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http://www.ohsu.edu/gmsr/smc/downloads/SMChumC8400B.txt

  
 Nuclear Hormone Receptors and Gene Expression -- Aranda and Pascual 81 (3): 1269 -- Physiological Reviews
Photoperiodic Regulation of Hypothalamic Retinoid Signaling: Association of Retinoid X Receptor {gamma} with Body Weight
or heterodimers with the retinoid X receptor with DNA response
The RING Finger Protein, RNF8, Interacts with Retinoid X Receptor {alpha} and Enhances Its Transcription-stimulating Activity
http://physrev.physiology.org/cgi/content/abstract/81/3/1269

  
 The page cannot be found
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HTTP Error 404 - File or directory not found.
If you reached this page by clicking a link, contact the Web site administrator to alert them that the link is incorrectly formatted.
http://www.health-x.com/health-x/sickle.html

  
 The human ATP-binding cassette (ABC) transporter superfamily -- Dean et al. 42 (7): 1007 -- Journal of Lipid Research
genetic evidence links these classes of ABC genes to membrane
The human ABCB9 gene can complement the yeast ortholog
being very tightly linked to cell lipid metabolism, it is not
http://www.jlr.org/cgi/content/full/42/7/1007

  
 Recycling of RNA Binding Iron Regulatory Protein 1 into an Aconitase after Nitric Oxide Removal Depends on ...
In humans, mutation of the ABC7 gene causes X-linked sideroblastic
http://www.jbc.org/cgi/content/full/277/34/31220

  
 Ataxia: Recessive
Heterozygous females: May have mild anemia, but not ataxia
Allelic with: Fragile X syndrome with > 200 CGG repeats
http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

  
 Hum. Mol. Genet. -- Sign In Page
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Articles by Allikmets, R. Articles by Koeller, D. To view this item, select one of the options below:
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X- linked sideroblastic...
http://hmg.oupjournals.org/cgi/content/abstract/8/5/743

  
 Genes, Locations and Genetic Disorders on Chromosome X
Genes, Locations and Genetic Disorders on Chromosome X
Last Updated: Sun Aug 13 22:00:02 EDT 2000
http://wehih.wehi.edu.au/gdbreports/Chr.X.omim.html

  
 An essential function of the mitochondrial sulfhydryl oxidase Erv1p/ALR in the maturation of cytosolic Fe/S proteins -- ...
Bekri, S., Kispal, G., Lange, H., Fitzsimons, E., Tolmie, J., Lill, R. and Bishop, D.F. (2000) Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia (XLSA/A) with disruption of cytosolic iron–sulfur protein maturation.
X. Chen, Y. Li, K. Wei, L. Li, W. Liu, Y. Zhu, Z. Qiu, and F. He
http://emboreports.npgjournals.com/cgi/content/full/2/8/715

  
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The requested page title was invalid, empty, or an incorrectly linked inter-language or inter-wiki title.
http://en.wikipedia.org/wiki/List_of_genetic_disorders

  
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