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Topic: X linked sideroblastic anemia


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In the News (Wed 19 Nov 08)

  
  Encyclopedia of Nursing & Allied Health | Anemias   (Site not responding. Last check: 2007-10-13)
Anemia is a condition characterized by abnormally low levels of healthy red blood cells or hemoglobin (the component of red blood cells that delivers oxygen to tissues throughout the body).
Sideroblastic anemia results from an enzyme disorder in which the body has adequate iron but is unable to incorporate it into hemoglobin.
X rays and examinations of bone marrow may be used to identify the source of bleeding.
health.enotes.com /nursing-encyclopedia/anemias/print   (2812 words)

  
 SIDEROBLASTIC ANEMIAS
Vacuoles in normoblasts and myeloid precursors are prominent in the sideroblastic anemia of Pearson's syndrome.
Sideroblastic anemia remains in the differential diagnosis of patients with iron deficiency and anemia that is refractory to iron replacement.
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.
sickle.bwh.harvard.edu /sideroblastic.html   (6908 words)

  
 Laguna Medical Systems
Anemia is defined as a decrease in the circulating red blood cell (RBC) mass and a corresponding decrease in the oxygen-carrying capacity of the blood.
Anemia of chronic disease is due to the underlying disease condition, not a deficiency.
Sideroblastic anemia is diagnosed with a bone marrow biopsy.
www.lagunamedsys.com /EdgeArchive/feature101599.htm   (4315 words)

  
 Rare Pediatric Disease Database   (Site not responding. Last check: 2007-10-13)
The sideroblastic anemias are a group of rare blood disorders characterized by the bone marrow's inability to manufacture normal red blood cells.
Females with one copy of an affected X chromosome show no signs of disease and are termed “silent carriers.” There are a few patients who develop sideroblastic anemia as part of a metabolic syndrome or disease.
congenital sideroblastic anemia may be caused by mutations in two key iron-related genes: the ATP7 gene and the ALAS2 gene, which are located on the X-chromosome, one of the two sex chromosomes.
www.madisonsfoundation.org /content/3/1/display.asp?did=284   (913 words)

  
 Anemia   (Site not responding. Last check: 2007-10-13)
Anemia is a general term for a category of blood conditions that affect the red blood cells or the oxygen-carrying hemoglobin they contain.
In anemia, there is either a reduction in the number of red blood cells in circulation or a decrease in the amount or quality of hemoglobin.
One type of sideroblastic anemia is due to a genetic defect in an enzyme that uses vitamin B6 as a cofactor.
www.kroger.com /hn/Concern/Anemia.htm   (1678 words)

  
 eMedicine - Anemia : Article by Marcel E Conrad, MD
Although geographic diseases, such as sickle cell anemia, thalassemia, malaria, hookworm, and chronic infections, are responsible for a portion of the increase, nutritional factors with iron deficiency and, to a lesser extent, folic acid deficiency play major roles in the increased prevalence of anemia.
Anemia solely due to hemolysis does not occur until RBCs are being destroyed at 6-8 times the normal rate, reducing the mean RBC lifespan to less than 20 days because of the bone marrow's capacity to undergo 6-fold hypertrophy and hyperplasia.
Splenectomy is useful in the treatment of autoimmune hemolytic anemias and in certain hereditary hemolytic disorders (ie, hereditary spherocytosis and elliptocytosis, certain unstable Hb disorders, pyruvic kinase deficiency).
www.emedicine.com /MED/topic132.htm   (7991 words)

  
 Anemia And Blood   (Site not responding. Last check: 2007-10-13)
Typically anemia refers to low red blood cell counts but aplastic anemia patients have lower counts on all three blood cell types: red blood cells white blood cells and platelets anemia including incresing dietary intake of readily available iron and iron supplementation; the treatment is determined by the type of anemia that is diagnosed.
Aplastic anemia is treated with Anemia (Blood) In a moment we will talk about type the red blood count (hemoglobin hematocrit) as it relates to recreational and competitive athletics (including cycling) Sickle cell anemia is an inherited blood disease.
Anemia is a common blood disorder which is caused when there is a drop in hemoglobin or hematocrit in the blood.
www.angelsbyjoyce.com /anemia-and-blood.htm   (635 words)

  
 American Society of Hematology: The Hematologist
Once iron deficiency or iron-deficient erythropoiesis (i.e., from chronic infection or inflammation) and a thalassemic phenotype have been excluded, congenital sideroblastic anemia is the third most common cause of microcytic anemia.
Thus examination of the X-inactivation status is useful for screening females with sideroblastic anemia caused by mutations in the ALAS2 gene.
Once a genetic basis for the sideroblastic anemia is established, the family or patient can be advised that there is no known increased risk for leukemia or the like in the disorder.
www.hematology.org /publications/hematologist/ja06/ask.cfm   (804 words)

  
 Anemia, Sideroblastic
Sideroblastic Anemias are a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells.
Sideroblastic Anemias are characterized by general weakness, fatigue and difficulty breathing.
Acquired forms of Sideroblastic Anemia may be caused by excessive alcohol consumption, or as a side effect of drugs such as anti-tuberculosis agents, or the antibiotic drug chloramphenicol.
hw.healthdialog.com /kbase/nord/nord351.htm   (1287 words)

  
 X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia -- Aivado et al. 97 (12): 4000 -- ...
X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia -- Aivado et al.
X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia
X- linked sideroblastic anemia in ten female probands due to ALAS2 mutations and skewed X chromosome inactivation [abstract].
www.bloodjournal.org /cgi/content/full/97/12/4000   (1714 words)

  
 Pyridoxine Refractory X-Linked Sideroblastic Anemia Caused by a Point Mutation in the Erythroid 5-Aminolevulinate ...
The patient's mother was also found to have mild anemia with slightly increased serum iron concentration (Table 2) and increased red blood cell size distribution (red blood cell distribution width, 28.7%; normal, 10.5% to 15.3%).
The patient was diagnosed with sideroblastic anemia, most likely XLSA, and received oral pyridoxine hydrochloride administration at daily doses of 200 mg for 10 weeks and 120 mg for an additional 4 weeks, but the therapy was ineffective (Fig 2 and Table 2).
Cotter PD, Rucknagel DL, Bishop DF: X-linked sideroblastic anemia: Identification of the mutation in the erythroid-specific
www.bloodjournal.org /cgi/content/full/90/2/822   (7016 words)

  
 eMedicine - Anemia, Acute : Article by Margaret Lee, MD   (Site not responding. Last check: 2007-10-13)
Physiologically, anemia is a condition in which reduced red cell mass leads to diminished oxygen-carrying capacity that does not optimally meet the metabolic demands of the body.
Nutritional anemia is common in infancy because of the associated rapid growth (necessitating an increase in red blood cell mass) and dietary adjustments.
An elevated number of reticulocytes (eventually) is observed in individuals with anemia caused by hemolysis or blood loss; note that the absence of reticulocytosis may simply reflect a "lag" in the response to the acute onset of anemia.
www.emedicine.com /ped/topic98.htm   (3331 words)

  
 X-linked sideroblastic anemia - Genetics Home Reference
X-linked sideroblastic anemia is an inherited disorder that prevents red blood cells from making sufficient hemoglobin, the iron-containing protein that carries oxygen in the blood.
Mutations in the ALAS2 gene cause X-linked sideroblastic anemia.
Mutations in the HFE gene modify the course of X-linked sideroblastic anemia.
ghr.nlm.nih.gov /condition=xlinkedsideroblasticanemia   (728 words)

  
 X chromosome - Wikipedia, the free encyclopedia
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals (the other is the Y chromosome).
Early in embryonic development in females, one of the two X chromosomes is randomly and permanently inactivated in nearly all somatic cells (cells other than egg and sperm cells).
Recessive genes on the X chromosome that cause serious diseases are usually passed from female carriers to their ill sons and carrier daughters.
en.wikipedia.org /wiki/X_chromosome   (1293 words)

  
 Int
The key for diagnosis is the presence of 15% ring sideroblast in erythroid precursors of bone marrow aspirate.
His parents refused further investigations until the year 2003 when he was 15 years of age; bone marrow aspirate was performed and revealed sideroblastic anaemia with presence of 15% ring sideroblasts (Fig:1) and erythroid hyperplasia with underlying dyserythropoeisis with the presence of binucleated normoblast, intercytoplasmic bridging and basophilic stippling.
In this case, the mother was initially diagnosed as having primary acquired sideroblastic anaemia because of several reasons; the patient is a female, with no history of anaemia at childhood and her peripheral blood film showed a macrocytic anaemia and returning to normal when she was not pregnant.
www.e-imj.com /Vol4-No2/Vol4-No2-C3.htm   (1177 words)

  
 Phosphoglycerate Kinase Deficiency
Warm Antibody Hemolytic Anemia is an autoimmune disorder characterized by the premature destruction of red blood cells by the body's natural defenses against invading organisms (antibodies).
Acquired Autoimmune Hemolytic Anemia is an autoimmune disorder characterized by the premature destruction of red blood cells.
Sideroblastic Anemia is a blood disorder characterized by an impaired ability of the bone marrow to produce normal red blood cells.
hw.healthdialog.com /kbase/nord/nord914.htm   (1263 words)

  
 X-linked sideroblastic anaemia with ataxia: another mitochondrial disease? -- Hellier et al. 70 (1): 65 -- Journal of ...
The sideroblastic anaemias are a heterogeneous group of disorders, which may be inherited or acquired.
Sideroblastic anaemia is characterised by ineffective erythropoiesis and marked iron loading of the red cell precursors.
Clinically patients with inherited sideroblastic anaemias have an anaemia that may be identified at birth.
jnnp.bmjjournals.com /cgi/content/full/70/1/65   (2070 words)

  
 NoBlood - View Single Post - Late-onset X-linked sideroblastic anemia following hemodialysis
X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroid-specific 5-aminolevulinate synthase (ALAS2).
The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely eliminated the ringed sideroblasts.
The very late onset in this case of XLSA emphasizes that nutritional deficiencies caused either by dietary irregularities in the elderly or, as in this case, by maintenance hemodialysis therapy, may uncover occult inherited enzymatic deficiencies in the heme biosynthetic pathway.
www.noblood.org /789-post1.html   (206 words)

  
 Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder -- Pagon et al. 22 (4): 267 -- Journal of ...
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder -- Pagon et al.
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder
previously been reported to be inherited in an X linked recessive manner.
jmg.bmjjournals.com /cgi/content/abstract/22/4/267   (358 words)

  
 MedlinePlus: Anemia
Anemia: When Low Iron Is the Cause (American Academy of Family Physicians)
Anemia (Normocytic Anemia) (American Academy of Family Physicians)
Anemia in Kidney Disease and Dialysis (National Institute of Diabetes and Digestive and Kidney Diseases)
www.nlm.nih.gov /medlineplus/anemia.html   (316 words)

  
 MotherNature.com - Anemia
(See iron deficiency anemia, pernicious anemia [vitamin B12-related], and sickle cell anemia.) Anyone with unexplained anemia should have the cause determined by a qualified doctor.
Advanced anemia may also result in lightheadedness, headaches, ringing in the ears (tinnitus), irritability, pale skin, unpleasant sensations in the legs with an uncontrollable urge to move them, and getting out of breath easily.
Conventional therapy for anemia involves treating the cause of anemia and may include blood transfusions or supplementation with iron, vitamin B12, folic acid, or erythropoietin (EPO), a blood-building hormone.
www.mothernature.com /Library/Ency/Index.cfm/Id/3562008   (1709 words)

  
 X-linked sideroblastic anemia Treatment and Symptoms
Anemia, hereditary sideroblastic; Anemia, sex-linked hypochromic sideroblastic; ANH1; Congenital sideroblastic anaemia; Erythroid 5-aminolevulinate synthetase deficiency; Hereditary iron-loading anemia; Hypochromic anemia; XLSA
X-linked sideroblastic anemia is an inherited disorder of red blood cells.
Although these cells have an adequate amount of iron, they are unable to use it to make hemoglobin.
goldbamboo.com /topic-t6823.html   (292 words)

  
 Medical Dictionary: X-linked sideroblastic anemia - WrongDiagnosis.com
X-linked sideroblastic anemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that X-linked sideroblastic anemia, or a subtype of X-linked sideroblastic anemia, affects less than 200,000 people in the US population.
Terms that may be interchangeable with X-linked sideroblastic anemia:
www.wrongdiagnosis.com /medical/x_linked_sideroblastic_anemia.htm   (213 words)

  
 Anemia (Print Version)
Anemia: When Low Iron Is the Cause (American Academy of Family Physicians) - http://familydoctor.org/009.xml
Anemia in Kidney Disease and Dialysis (National Institute of Diabetes and Digestive and Kidney Diseases) - http://kidney.niddk.nih.gov/kudiseases/pubs/anemia/
The primary NIH organization for research on Anemia is the National Institute of Diabetes and Digestive and Kidney Diseases - http://www.niddk.nih.gov/
www.nlm.nih.gov /medlineplus/print/anemia.html   (498 words)

  
 NEJM -- X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr388-to-Ser Substitution in Erythroid ...
Bekri, S., May, A., Cotter, P. D., Al-Sabah, A. I., Guo, X., Masters, G. S., Bishop, D. A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
Cazzola, M., May, A., Bergamaschi, G., Cerani, P., Ferrillo, S., Bishop, D. Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
Furuyama, K., Sassa, S. Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.
content.nejm.org /cgi/content/abstract/330/10/675   (778 words)

  
 A family study of congenital X linked sideroblastic anaemia -- Holmes et al. 27 (1): 26 -- Journal of Medical Genetics
A family study of congenital X linked sideroblastic anaemia -- Holmes et al.
A family study of congenital X linked sideroblastic anaemia
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
jmg.bmjjournals.com /cgi/content/abstract/27/1/26   (217 words)

  
 Blood/lymphatic system - Genetics Home Reference
Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia
Turner syndrome in female with X chromosome see Noonan syndrome
X chromosome-linked sideroblastic anemia see X-linked sideroblastic anemia
ghr.nlm.nih.gov /ghr/conditionsByCategory/show/bloodlymphaticsystem   (263 words)

  
 Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts ...
Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes -- Nakajima et al.
Articles by Nakajima, O. Articles by Yamamoto, M. Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes
generation of ring sideroblasts in animals would contribute
www.genestocellsonline.org /cgi/content/abstract/11/6/685   (182 words)

  
 Blood Cell Distribution Red Width Content   (Site not responding. Last check: 2007-10-13)
RANCHO CORDOVA, Calif. BW HealthWire Aug. However, as a result of the President's recent announcement, our BioArchive customers may soon find that the demand on their inventory has significantly increased as National Institute of Health NIH funded research programs come to them in order to source high quality cord blood specimens.
To date the primary demand for the stem cells stored in the BioArchive based cord blood banks around the world has been for the purpose of curing deadly diseases such as leukemia, lymphomas, diverse inherited anemias, such as sickle cell anemia and thalassemia, and other genetic diseases.
Since May 1998, THERMOGENESIS CORP. has provided a unique, totally integrated system to public and national cord blood banks to enable the collecting and preserving tissue matched units of neonatal stem cells sourced from umbilical cord blood.
www.blood-cell-research.info /blood-cell-distribution-red-width.html   (976 words)

  
 Disease, medication, symptom etc database index : X Diseases Database   (Site not responding. Last check: 2007-10-13)
Disease, medication, symptom etc database index : X Diseases Database
Disease, medication, symptom etc database index : X
Content is not asserted complete or error free, please see also our disclaimer.
www.diseasesdatabase.com /disease_index_X.asp   (102 words)

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