Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.
An enzyme of the transferase class that catalyzes condensation of the succinyl group from succinyl coenzyme A with glycine to form delta-aminolevulinate. It is a pyridoxyal phosphate protein and the reaction occurs in mitochondria as the first step of the heme biosynthetic pathway. The enzyme is a key regulatory enzyme in heme biosynthesis. In liver feedback is inhibited by heme. EC 2.3.1.37.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
The 4-methanol form of VITAMIN B 6 which is converted to PYRIDOXAL PHOSPHATE which is a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. Although pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical researchers, this practice is erroneous and sometimes misleading (EE Snell; Ann NY Acad Sci, vol 585 pg 1, 1990).
A group of muscle diseases associated with abnormal mitochondria function.
A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.
Immature, nucleated ERYTHROCYTES occupying the stage of ERYTHROPOIESIS that follows formation of ERYTHROID PRECURSOR CELLS and precedes formation of RETICULOCYTES. The normal series is called normoblasts. Cells called MEGALOBLASTS are a pathologic series of erythroblasts.
Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.
A family of thioltransferases that contain two active site CYSTEINE residues, which either form a disulfide (oxidized form) or a dithiol (reduced form). They function as an electron carrier in the GLUTHIONE-dependent synthesis of deoxyribonucleotides by RIBONUCLEOTIDE REDUCTASES and may play a role in the deglutathionylation of protein thiols. The oxidized forms of glutaredoxins are directly reduced by the GLUTATHIONE.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria.
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
Enzymes that catalyze the breakage of a carbon-oxygen bond leading to unsaturated products via the removal of water. EC 4.2.1.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)
Genes that are located on the X CHROMOSOME.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE).
Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (Dorland, 27th ed)
The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
The number of PLATELETS per unit volume in a sample of venous BLOOD.
A subnormal level of BLOOD PLATELETS.
Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation.
Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms.
Onset of HYPERREFLEXIA; SEIZURES; or COMA in a previously diagnosed pre-eclamptic patient (PRE-ECLAMPSIA).
The attachment of PLATELETS to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS.
Realm in central Europe consisting of a confederation of German and Italian territories under the suzerainty of an emperor and existing from the 9th or 10th century to 1806.
'Cooking and eating utensils' are tools or instruments made of various materials, such as metals, ceramics, glass, or silicone, that are specifically designed and used for preparing, serving, and consuming food during meal preparations and dining occasions.
Substances capable of inhibiting, retarding or arresting the process of fermentation, acidification or other deterioration of foods.
A historical and cultural entity dispersed across a wide geographical area under the political domination and influence of ancient Rome, bringing to the conquered people the Roman civilization and culture from 753 B.C. to the beginning of the imperial rule under Augustus in 27 B.C. The early city built on seven hills grew to conquer Sicily, Sardinia, Carthage, Gaul, Spain, Britain, Greece, Asia Minor, etc., and extended ultimately from Mesopotamia to the Atlantic. Roman medicine was almost entirely in Greek hands, but Rome, with its superior water system, remains a model of sanitation and hygiene. (From A. Castiglioni, A History of Medicine, 2d ed pp196-99; from F. H. Garrison, An Introduction to the History of Medicine, 4th ed, pp107-120)
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
The branch of pharmacology that deals directly with the effectiveness and safety of drugs in humans.
Mold and yeast inhibitor. Used as a fungistatic agent for foods, especially cheeses.

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. (1/161)

X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinically pyridoxine-responsive. The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather. There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder. One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness. Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia.  (+info)

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (2/161)

X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the XLSA/A gene. This gene, ABC7, is an ortholog of the yeast ATM1 gene whose product localizes to the mitochondrial inner membrane and is involved in iron homeostasis. The full-length ABC7 cDNA was cloned and the entire coding region screened for mutations in a kindred in which five male members manifested XLSA/A. An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. The mutation was shown to segregate with the disease in the family and was not detected in at least 600 chromosomes of general population controls. Introduction of the corresponding mutation into the Saccharomyces cerevisiae ATM1 gene resulted in a partial loss of function of the yeast Atm1 protein. In addition, the human wild-type ABC7 protein was able to complement ATM1 deletion in yeast. These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome.  (+info)

Prognostic significance of magnetic resonance imaging of femoral marrow in patients with myelodysplastic syndromes. (3/161)

PURPOSE: To investigate whether the abnormalities observed on femoral marrow magnetic resonance images are related to the development of leukemia and survival of patients with myelodysplastic syndromes (MDS). PATIENTS AND METHODS: The findings on magnetic resonance images of the femoral marrow were evaluated over periods of 1 to 92 months (median, 18 months) in 42 consecutive adult patients with newly diagnosed MDS. Magnetic resonance images were obtained by the T1-weighted spin echo method and the short T1 inversion recovery technique. RESULTS: Magnetic resonance images showed that the femoral marrow patterns changed from fatty, faint, or nodular to scattered or uniform as the disease progressed. Development of acute myeloid leukemia was observed in only 13 patients whose marrow exhibited a scattered or uniform pattern. The overall survival of the 29 patients with a scattered or uniform marrow pattern was significantly shorter than that of the 13 patients with a fatty, faint, or nodular marrow pattern (10.7% v 73.3% at 7 years; P < .01). The period of leukemia-free survival was also significantly shorter in the patients with a scattered or uniform marrow pattern versus a fatty, faint, or nodular pattern (37.7% v 100% at 7 years; P < .01). CONCLUSION: Magnetic resonance images of the femoral marrow can provide valuable information for assessing the prognosis and determining the most appropriate management of patients with MDS.  (+info)

Nonrandom chromosomal abnormalities in hematologic disorders of man. (4/161)

A nonrandom pattern of chromosomal abnormalities occurs in bone marrow cells obtained from patients with hematologic disorders who have an abnormal karyotype involving a C group chromosome. An additional number 8 chromosome is the most common abnormality, found in more than one-half of the patients studies. An additional number 9 chromosome and the loss of all or part of a number 7 are abnormalities that occur more often than might be expected by chance. It is proposed that specific human chromosomal abnormalities may be related to different specific etiologic agents.  (+info)

Mother cell of megakaryocyte. (5/161)

It was attempted to describe the morphology of the most immature cell of megakaryocytic series. The megakaryocytes were observed with the electron microscope in five cases, being traced back to their immature forms. In two cases the most immature cells of megakaryocytic series were considered to be the cells which were probably identified as lymphocytes under the light microscope, but they were not lymphocytes with the electron microscope. In other two cases it was presumed that neutrophilic and megakaryocytic series were derived from morphologically similar immature cells, since the most immature cells of neutrophilic and megakaryocytic series were not distinguished when they were traced back to their immature forms. These findings suggest that mother cells of megakaryocytes in the adult bone marrow may be identified as lymphoid cells with the light microscope.  (+info)

Mechanism of platelet liberation. (6/161)

Megakaryocytes from 5 patients and 1 normal person were observed electronmicroscopically. In some pathologic states platelets seemed to be liberated without demarcation membrane system (DMS) and in a normal individual they seemed to be liberated independently of DMS. These findings suggest that DMS is not concerned with platelet liberation and that platelets are liberated through pseudopodia and bleb formation. In mature megakaryocytes vigorous amoeboid movement seems to exist and both pseudopodia and blebs may represent this movement. Structural similarity between surface connected system (SCS) of platelet and DMS of megakaryocyte suggests that the structure called DMS is transported as SCS into platelet.  (+info)

Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. (7/161)

In a series of 841 patients with hematologic disorders, 10 individuals were found to have an extra C group chromosome in their bone marrow cells. In two the extra chromosome was not identified, but in the remaining eight it was No. 8. Four of these ten patients had leukemia, and the others had cytopenias or other probably preleukemic conditions. The mean value for glutathione reductase activity in the red cells of four patients with trisomy 8 was significantly higher (2980 +/- 940 mumoles/min/liter of erythrocytes) than in normal controls (1930 +/- 360) or in any of five different control groups of patients with hematologic disorders. The extent of enzyme activation as a result of preincubation with exogenous flavin adenine dinucleotide was similar in the erythrocytes of all groups. The reasons for the high values of red cell glutathione reductase activity in patients with trisomy 8 are discussed in the light of the proposed assignment of the gene for that enzyme to chromosome 8.  (+info)

Successful allogeneic bone marrow transplantation for childhood-onset refractory anemia with ringed sideroblasts. (8/161)

Refractory anemia with ringed sideroblasts (RARS) is an extremely rare type of myelodysplastic syndrome in children. We describe a 10-year-old boy with RARS presented with pancytopenia. He remained relatively stable with only a few transfusions until age of 20 years, when he underwent an allogeneic bone marrow transplantation (BMT) because of increased transfusion requirements. He remains in complete chimeric state at 20 months posttransplant with normal hematologic parameters. To our knowledge, this is the first description of successful BMT in a patient with childhood-onset RARS. The indication of BMT for this rare disorder in children is discussed.  (+info)

Sideroblastic anemia is a type of anemia characterized by the presence of ringed sideroblasts in the bone marrow. Ringed sideroblasts are red blood cell precursors that have an abnormal amount of iron accumulated in their mitochondria, which forms a ring around the nucleus. This results in the production of abnormal hemoglobin and impaired oxygen transport.

Sideroblastic anemia can be classified as congenital or acquired. Congenital sideroblastic anemias are caused by genetic defects that affect heme synthesis or mitochondrial function, while acquired sideroblastic anemias are associated with various conditions such as myelodysplastic syndromes, chronic alcoholism, lead toxicity, and certain medications.

Symptoms of sideroblastic anemia may include fatigue, weakness, shortness of breath, and pallor. Diagnosis is typically made through a bone marrow aspiration and biopsy, which can identify the presence of ringed sideroblasts. Treatment depends on the underlying cause but may include iron chelation therapy, vitamin B6 supplementation, or blood transfusions.

5-Aminolevulinate synthase (ALAS) is an enzyme that catalyzes the first step in heme biosynthesis, a metabolic pathway that produces heme, a porphyrin ring with an iron atom at its center. Heme is a crucial component of hemoglobin, cytochromes, and other important molecules in the body.

ALAS exists in two forms: ALAS1 and ALAS2. ALAS1 is expressed in all tissues, while ALAS2 is primarily expressed in erythroid cells (precursors to red blood cells). The reaction catalyzed by ALAS involves the condensation of glycine and succinyl-CoA to form 5-aminolevulinate.

Deficiencies or mutations in the ALAS2 gene can lead to a rare genetic disorder called X-linked sideroblastic anemia, which is characterized by abnormal red blood cell maturation and iron overload in mitochondria.

Anemia is a medical condition characterized by a lower than normal number of red blood cells or lower than normal levels of hemoglobin in the blood. Hemoglobin is an important protein in red blood cells that carries oxygen from the lungs to the rest of the body. Anemia can cause fatigue, weakness, shortness of breath, and a pale complexion because the body's tissues are not getting enough oxygen.

Anemia can be caused by various factors, including nutritional deficiencies (such as iron, vitamin B12, or folate deficiency), blood loss, chronic diseases (such as kidney disease or rheumatoid arthritis), inherited genetic disorders (such as sickle cell anemia or thalassemia), and certain medications.

There are different types of anemia, classified based on the underlying cause, size and shape of red blood cells, and the level of hemoglobin in the blood. Treatment for anemia depends on the underlying cause and may include dietary changes, supplements, medication, or blood transfusions.

Refractory anemia is a type of anemia that does not respond to typical treatments, such as iron supplements or hormonal therapy. It is often associated with various bone marrow disorders, including myelodysplastic syndromes (MDS), a group of conditions characterized by abnormal blood cell production in the bone marrow.

In refractory anemia, the bone marrow fails to produce enough healthy red blood cells, leading to symptoms such as fatigue, weakness, shortness of breath, and pale skin. The condition can be difficult to treat, and treatment options may include more aggressive therapies such as immunosuppressive drugs, chemotherapy, or stem cell transplantation.

It is important to note that the term "refractory" in this context refers specifically to the lack of response to initial treatments, rather than a specific severity or type of anemia.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

Pyridoxine is the chemical name for Vitamin B6. According to the medical definition, Pyridoxine is a water-soluble vitamin that is part of the B-vitamin complex and is essential for the metabolism of proteins, carbohydrates, and fats. It plays a vital role in the regulation of homocysteine levels in the body, the formation of neurotransmitters such as serotonin and dopamine, and the synthesis of hemoglobin.

Pyridoxine can be found naturally in various foods, including whole grains, legumes, vegetables, nuts, seeds, meat, poultry, and fish. It is also available as a dietary supplement and may be prescribed by healthcare providers to treat or prevent certain medical conditions, such as vitamin B6 deficiency, anemia, seizures, and carpal tunnel syndrome.

Like other water-soluble vitamins, Pyridoxine cannot be stored in the body and must be replenished regularly through diet or supplementation. Excessive intake of Pyridoxine can lead to toxicity symptoms such as nerve damage, skin lesions, and light sensitivity.

Mitochondrial myopathies are a group of genetic disorders caused by mutations in the mitochondrial DNA or nuclear DNA that affect the function of the mitochondria, which are the energy-producing structures in cells. These mutations can result in impaired muscle function and other symptoms, depending on the specific type and severity of the disorder.

Mitochondrial myopathies can present at any age and can cause a range of symptoms, including muscle weakness, exercise intolerance, fatigue, muscle pain, and difficulty with coordination and balance. Some people with mitochondrial myopathies may also experience neurological symptoms such as seizures, developmental delays, and hearing or vision loss.

The diagnosis of mitochondrial myopathies typically involves a combination of clinical evaluation, muscle biopsy, genetic testing, and other diagnostic tests to assess mitochondrial function. Treatment is generally supportive and may include physical therapy, medications to manage symptoms, and nutritional support. In some cases, specific therapies such as vitamin or coenzyme Q10 supplementation may be recommended based on the underlying genetic defect.

Aplastic anemia is a medical condition characterized by pancytopenia (a decrease in all three types of blood cells: red blood cells, white blood cells, and platelets) due to the failure of bone marrow to produce new cells. It is called "aplastic" because the bone marrow becomes hypocellular or "aplastic," meaning it contains few or no blood-forming stem cells.

The condition can be acquired or inherited, with acquired aplastic anemia being more common. Acquired aplastic anemia can result from exposure to toxic chemicals, radiation, drugs, viral infections, or autoimmune disorders. Inherited forms of the disease include Fanconi anemia and dyskeratosis congenita.

Symptoms of aplastic anemia may include fatigue, weakness, shortness of breath, pale skin, easy bruising or bleeding, frequent infections, and fever. Treatment options for aplastic anemia depend on the severity of the condition and its underlying cause. They may include blood transfusions, immunosuppressive therapy, and stem cell transplantation.

Erythroblasts are immature red blood cells that are produced in the bone marrow. They are also known as normoblasts and are a stage in the development of red blood cells, or erythrocytes. Erythroblasts are larger than mature red blood cells and have a nucleus, which is lost during the maturation process. These cells are responsible for producing hemoglobin, the protein that carries oxygen in the blood. Abnormal increases or decreases in the number of erythroblasts can be indicative of certain medical conditions, such as anemia or leukemia.

Refractory anemia with excess blasts is a type of blood disorder that is characterized by the presence of increased numbers of immature blood cells, or "blasts," in the bone marrow and peripheral blood. This condition is considered a subtype of myelodysplastic syndrome (MDS), which is a group of disorders caused by abnormalities in the production of blood cells in the bone marrow.

In refractory anemia with excess blasts, the bone marrow fails to produce sufficient numbers of healthy red blood cells, white blood cells, and platelets. This results in anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). Additionally, there is an increased number of blasts in the bone marrow and peripheral blood, which can indicate the development of acute myeloid leukemia (AML), a more aggressive form of blood cancer.

Refractory anemia with excess blasts is considered "refractory" because it does not respond well to treatment, including chemotherapy and stem cell transplantation. The prognosis for this condition varies depending on the severity of the disease and other individual factors, but it is generally poor, with many patients progressing to AML within a few years.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Lactic acidosis is a medical condition characterized by an excess accumulation of lactic acid in the body. Lactic acid is a byproduct produced in the muscles and other tissues during periods of low oxygen supply or increased energy demand. Under normal circumstances, lactic acid is quickly metabolized and cleared from the body. However, when the production of lactic acid exceeds its clearance, it can lead to a state of acidosis, where the pH of the blood becomes too acidic.

Lactic acidosis can be caused by several factors, including:

* Prolonged exercise or strenuous physical activity
* Severe illness or infection
* Certain medications, such as metformin and isoniazid
* Alcoholism
* Hypoxia (low oxygen levels) due to lung disease, heart failure, or anemia
* Inherited metabolic disorders that affect the body's ability to metabolize lactic acid

Symptoms of lactic acidosis may include rapid breathing, fatigue, muscle weakness, nausea, vomiting, and abdominal pain. Severe cases can lead to coma, organ failure, and even death. Treatment typically involves addressing the underlying cause of the condition and providing supportive care, such as administering intravenous fluids and bicarbonate to help restore normal pH levels.

Glutaredoxins (Grxs) are small, ubiquitous proteins that belong to the thioredoxin superfamily. They play a crucial role in maintaining the redox balance within cells by catalyzing the reversible reduction of disulfide bonds and mixed disulfides between protein thiols and low molecular weight compounds, using glutathione (GSH) as a reducing cofactor.

Glutaredoxins are involved in various cellular processes, such as:

1. DNA synthesis and repair
2. Protein folding and degradation
3. Antioxidant defense
4. Regulation of enzyme activities
5. Iron-sulfur cluster biogenesis

There are two main classes of glutaredoxins, Grx1 and Grx2, which differ in their active site sequences and functions. In humans, Grx1 is primarily located in the cytosol, while Grx2 is found in both the cytosol and mitochondria.

The medical relevance of glutaredoxins lies in their role as antioxidant proteins that protect cells from oxidative stress and maintain cellular redox homeostasis. Dysregulation of glutaredoxin function has been implicated in several pathological conditions, including neurodegenerative diseases, cancer, and aging-related disorders.

Hemolytic anemia is a type of anemia that occurs when red blood cells are destroyed (hemolysis) faster than they can be produced. Red blood cells are essential for carrying oxygen throughout the body. When they are destroyed, hemoglobin and other cellular components are released into the bloodstream, which can lead to complications such as kidney damage and gallstones.

Hemolytic anemia can be inherited or acquired. Inherited forms of the condition may result from genetic defects that affect the structure or function of red blood cells. Acquired forms of hemolytic anemia can be caused by various factors, including infections, medications, autoimmune disorders, and certain medical conditions such as cancer or blood disorders.

Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, pale skin, jaundice (yellowing of the skin and eyes), dark urine, and a rapid heartbeat. Treatment for hemolytic anemia depends on the underlying cause and may include medications, blood transfusions, or surgery.

"Preleukemia" is a term that was used historically to describe conditions characterized by the presence of preleukemic cells or certain genetic changes that could potentially progress into acute leukemia. However, this terminology has largely been replaced in modern medicine.

Currently, the preferred terms are "clonal hematopoiesis" or "clonal cytopenias of undetermined significance (CCUS)" for conditions where there is an expansion of blood cells with certain genetic mutations but without evidence of progression to acute leukemia.

One example of this is a condition called "clonal hematopoiesis of indeterminate potential" (CHIP), which is defined by the presence of certain somatic mutations in hematopoietic stem cells, but without evidence of cytopenias or progression to malignancy.

It's important to note that not all individuals with CHIP will develop leukemia, and many may never experience any symptoms related to this condition. However, the presence of CHIP has been associated with an increased risk of hematologic cancers, as well as cardiovascular disease.

In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.

The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:

* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day

Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.

I'm sorry for any confusion, but "Hydro-Lyases" is not a recognized medical term or category in biochemistry. It seems like there might be a misunderstanding or a typo in the term.

In biochemistry, "lyases" are enzymes that catalyze the removal of groups from substrates by means other than hydrolysis or oxidation, often forming a double bond or a ring-forming reaction. They are classified and named based on the type of bond they break.

If you meant to ask about a specific enzyme or reaction, could you please provide more context or clarify the term? I'd be happy to help further with accurate information.

Fanconi anemia is a rare, inherited disorder that affects the body's ability to produce healthy blood cells. It is characterized by bone marrow failure, congenital abnormalities, and an increased risk of developing certain types of cancer. The condition is caused by mutations in genes responsible for repairing damaged DNA, leading to chromosomal instability and cell death.

The classic form of Fanconi anemia (type A) is typically diagnosed in childhood and is associated with various physical abnormalities such as short stature, skin pigmentation changes, thumb and radial ray anomalies, kidney and genitourinary malformations, and developmental delays. Other types of Fanconi anemia (B-G) may have different clinical presentations but share the common feature of bone marrow failure and cancer predisposition.

Bone marrow failure in Fanconi anemia results in decreased production of all three types of blood cells: red blood cells, white blood cells, and platelets. This can lead to anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). These conditions increase the risk of infections, fatigue, and bleeding.

Individuals with Fanconi anemia have a significantly higher risk of developing various types of cancer, particularly acute myeloid leukemia (AML) and solid tumors such as squamous cell carcinomas of the head, neck, esophagus, and anogenital region.

Treatment for Fanconi anemia typically involves managing symptoms related to bone marrow failure, such as transfusions, growth factors, and antibiotics. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for bone marrow failure but carries risks of its own, including graft-versus-host disease and transplant-related mortality. Regular cancer surveillance is essential due to the increased risk of malignancies in these patients.

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

Bone marrow is the spongy tissue found inside certain bones in the body, such as the hips, thighs, and vertebrae. It is responsible for producing blood-forming cells, including red blood cells, white blood cells, and platelets. There are two types of bone marrow: red marrow, which is involved in blood cell production, and yellow marrow, which contains fatty tissue.

Red bone marrow contains hematopoietic stem cells, which can differentiate into various types of blood cells. These stem cells continuously divide and mature to produce new blood cells that are released into the circulation. Red blood cells carry oxygen throughout the body, white blood cells help fight infections, and platelets play a crucial role in blood clotting.

Bone marrow also serves as a site for immune cell development and maturation. It contains various types of immune cells, such as lymphocytes, macrophages, and dendritic cells, which help protect the body against infections and diseases.

Abnormalities in bone marrow function can lead to several medical conditions, including anemia, leukopenia, thrombocytopenia, and various types of cancer, such as leukemia and multiple myeloma. Bone marrow aspiration and biopsy are common diagnostic procedures used to evaluate bone marrow health and function.

Hemolytic anemia, autoimmune is a type of anemia characterized by the premature destruction of red blood cells (RBCs) in which the immune system mistakenly attacks and destroys its own RBCs. This occurs when the body produces autoantibodies that bind to the surface of RBCs, leading to their rupture (hemolysis). The symptoms may include fatigue, weakness, shortness of breath, and dark colored urine. The diagnosis is made through blood tests that measure the number and size of RBCs, reticulocyte count, and the presence of autoantibodies. Treatment typically involves suppressing the immune system with medications such as corticosteroids or immunosuppressive drugs, and sometimes removal of the spleen (splenectomy) may be necessary.

Hypochromic anemia is a type of anemia characterized by the presence of red blood cells that have lower than normal levels of hemoglobin and appear paler in color than normal. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. In hypochromic anemia, there may be a decrease in the production or increased destruction of red blood cells, leading to a reduced number of red blood cells and insufficient oxygen supply to the tissues.

Hypochromic anemia can result from various underlying medical conditions, including iron deficiency, thalassemia, chronic inflammation, lead poisoning, and certain infections or chronic diseases. Treatment for hypochromic anemia depends on the underlying cause and may include iron supplements, dietary changes, medications, or blood transfusions.

X-linked genes are those genes that are located on the X chromosome. In humans, females have two copies of the X chromosome (XX), while males have one X and one Y chromosome (XY). This means that males have only one copy of each X-linked gene, whereas females have two copies.

X-linked genes are important in medical genetics because they can cause different patterns of inheritance and disease expression between males and females. For example, if a mutation occurs in an X-linked gene, it is more likely to affect males than females because males only have one copy of the gene. This means that even a single mutated copy of the gene can cause the disease in males, while females may be carriers of the mutation and not show any symptoms due to their second normal copy of the gene.

X-linked recessive disorders are more common in males than females because they only have one X chromosome. Examples of X-linked recessive disorders include Duchenne muscular dystrophy, hemophilia, and color blindness. In contrast, X-linked dominant disorders can affect both males and females, but females may have milder symptoms due to their second normal copy of the gene. Examples of X-linked dominant disorders include Rett syndrome and incontinentia pigmenti.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Pyridoxal phosphate (PLP) is the active form of vitamin B6 and functions as a cofactor in various enzymatic reactions in the human body. It plays a crucial role in the metabolism of amino acids, carbohydrates, lipids, and neurotransmitters. Pyridoxal phosphate is involved in more than 140 different enzyme-catalyzed reactions, making it one of the most versatile cofactors in human biochemistry.

As a cofactor, pyridoxal phosphate helps enzymes carry out their functions by facilitating chemical transformations in substrates (the molecules on which enzymes act). In particular, PLP is essential for transamination, decarboxylation, racemization, and elimination reactions involving amino acids. These processes are vital for the synthesis and degradation of amino acids, neurotransmitters, hemoglobin, and other crucial molecules in the body.

Pyridoxal phosphate is formed from the conversion of pyridoxal (a form of vitamin B6) by the enzyme pyridoxal kinase, using ATP as a phosphate donor. The human body obtains vitamin B6 through dietary sources such as whole grains, legumes, vegetables, nuts, and animal products like poultry, fish, and pork. It is essential to maintain adequate levels of pyridoxal phosphate for optimal enzymatic function and overall health.

Macrocytic anemia is a type of anemia in which the red blood cells are larger than normal in size (macrocytic). This condition can be caused by various factors such as deficiency of vitamin B12 or folate, alcohol abuse, certain medications, bone marrow disorders, and some inherited genetic conditions.

The large red blood cells may not function properly, leading to symptoms such as fatigue, weakness, shortness of breath, pale skin, and a rapid heartbeat. Macrocytic anemia can be diagnosed through a complete blood count (CBC) test, which measures the size and number of red blood cells in the blood.

Treatment for macrocytic anemia depends on the underlying cause. In cases of vitamin B12 or folate deficiency, supplements or dietary changes may be recommended. If the anemia is caused by medication, a different medication may be prescribed. In severe cases, blood transfusions or injections of vitamin B12 may be necessary.

Pernicious anemia is a specific type of vitamin B12 deficiency anemia that is caused by a lack of intrinsic factor, a protein made in the stomach that is needed to absorb vitamin B12. The absence of intrinsic factor leads to poor absorption of vitamin B12 from food and results in its deficiency.

Vitamin B12 is essential for the production of healthy red blood cells, which carry oxygen throughout the body. Without enough vitamin B12, the body cannot produce enough red blood cells, leading to anemia. Pernicious anemia typically develops slowly over several years and can cause symptoms such as fatigue, weakness, pale skin, shortness of breath, and a decreased appetite.

Pernicious anemia is an autoimmune disorder, which means that the body's immune system mistakenly attacks healthy cells in the stomach lining, leading to a loss of intrinsic factor production. It is more common in older adults, particularly those over 60 years old, and can also be associated with other autoimmune disorders such as type 1 diabetes, Hashimoto's thyroiditis, and Addison's disease.

Treatment for pernicious anemia typically involves vitamin B12 replacement therapy, either through oral supplements or injections of the vitamin. In some cases, dietary changes may also be recommended to ensure adequate intake of vitamin B12-rich foods such as meat, fish, poultry, and dairy products.

Heme is not a medical term per se, but it is a term used in the field of medicine and biology. Heme is a prosthetic group found in hemoproteins, which are proteins that contain a heme iron complex. This complex plays a crucial role in various biological processes, including oxygen transport (in hemoglobin), electron transfer (in cytochromes), and chemical catalysis (in peroxidases and catalases).

The heme group consists of an organic component called a porphyrin ring, which binds to a central iron atom. The iron atom can bind or release electrons, making it essential for redox reactions in the body. Heme is also vital for the formation of hemoglobin and myoglobin, proteins responsible for oxygen transport and storage in the blood and muscles, respectively.

In summary, heme is a complex organic-inorganic structure that plays a critical role in several biological processes, particularly in electron transfer and oxygen transport.

A blood transfusion is a medical procedure in which blood or its components are transferred from one individual (donor) to another (recipient) through a vein. The donated blood can be fresh whole blood, packed red blood cells, platelets, plasma, or cryoprecipitate, depending on the recipient's needs. Blood transfusions are performed to replace lost blood due to severe bleeding, treat anemia, support patients undergoing major surgeries, or manage various medical conditions such as hemophilia, thalassemia, and leukemia. The donated blood must be carefully cross-matched with the recipient's blood type to minimize the risk of transfusion reactions.

Erythropoiesis is the process of forming and developing red blood cells (erythrocytes) in the body. It occurs in the bone marrow and is regulated by the hormone erythropoietin (EPO), which is produced by the kidneys. Erythropoiesis involves the differentiation and maturation of immature red blood cell precursors called erythroblasts into mature red blood cells, which are responsible for carrying oxygen to the body's tissues. Disorders that affect erythropoiesis can lead to anemia or other blood-related conditions.

Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.

People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.

There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

HELLP syndrome is a serious complication in pregnancy, characterized by Hemolysis (the breakdown of red blood cells), Elevated Liver enzymes, and Low Platelet count. It is often considered a variant of severe preeclampsia or eclampsia, although it can also occur without these conditions.

The symptoms of HELLP syndrome include headache, nausea and vomiting, upper right abdominal pain, and visual disturbances. It can lead to serious complications for both the mother and the baby, such as liver failure, placental abruption, disseminated intravascular coagulation (DIC), and even death if not promptly diagnosed and treated.

The exact cause of HELLP syndrome is not known, but it is thought to be related to problems with the blood vessels that supply the placenta. Treatment typically involves delivering the baby as soon as possible, even if the baby is premature. Women who have had HELLP syndrome are at increased risk for complications in future pregnancies.

A platelet count is a laboratory test that measures the number of platelets, also known as thrombocytes, in a sample of blood. Platelets are small, colorless cell fragments that circulate in the blood and play a crucial role in blood clotting. They help to stop bleeding by sticking together to form a plug at the site of an injured blood vessel.

A normal platelet count ranges from 150,000 to 450,000 platelets per microliter (µL) of blood. A lower than normal platelet count is called thrombocytopenia, while a higher than normal platelet count is known as thrombocytosis.

Abnormal platelet counts can be a sign of various medical conditions, including bleeding disorders, infections, certain medications, and some types of cancer. It is important to consult with a healthcare provider if you have any concerns about your platelet count or if you experience symptoms such as easy bruising, prolonged bleeding, or excessive menstrual flow.

Thrombocytopenia is a medical condition characterized by an abnormally low platelet count (thrombocytes) in the blood. Platelets are small cell fragments that play a crucial role in blood clotting, helping to stop bleeding when a blood vessel is damaged. A healthy adult typically has a platelet count between 150,000 and 450,000 platelets per microliter of blood. Thrombocytopenia is usually diagnosed when the platelet count falls below 150,000 platelets/µL.

Thrombocytopenia can be classified into three main categories based on its underlying cause:

1. Immune thrombocytopenia (ITP): An autoimmune disorder where the immune system mistakenly attacks and destroys its own platelets, leading to a decreased platelet count. ITP can be further divided into primary or secondary forms, depending on whether it occurs alone or as a result of another medical condition or medication.
2. Decreased production: Thrombocytopenia can occur when there is insufficient production of platelets in the bone marrow due to various causes, such as viral infections, chemotherapy, radiation therapy, leukemia, aplastic anemia, or vitamin B12 or folate deficiency.
3. Increased destruction or consumption: Thrombocytopenia can also result from increased platelet destruction or consumption due to conditions like disseminated intravascular coagulation (DIC), thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS), or severe bacterial infections.

Symptoms of thrombocytopenia may include easy bruising, prolonged bleeding from cuts, spontaneous nosebleeds, bleeding gums, blood in urine or stools, and skin rashes like petechiae (small red or purple spots) or purpura (larger patches). The severity of symptoms can vary depending on the degree of thrombocytopenia and the presence of any underlying conditions. Treatment for thrombocytopenia depends on the cause and may include medications, transfusions, or addressing the underlying condition.

Blood platelets, also known as thrombocytes, are small, colorless cell fragments in our blood that play an essential role in normal blood clotting. They are formed in the bone marrow from large cells called megakaryocytes and circulate in the blood in an inactive state until they are needed to help stop bleeding. When a blood vessel is damaged, platelets become activated and change shape, releasing chemicals that attract more platelets to the site of injury. These activated platelets then stick together to form a plug, or clot, that seals the wound and prevents further blood loss. In addition to their role in clotting, platelets also help to promote healing by releasing growth factors that stimulate the growth of new tissue.

Idiopathic Thrombocytopenic Purpura (ITP) is a medical condition characterized by a low platelet count (thrombocytopenia) in the blood without an identifiable cause. Platelets are small blood cells that help your body form clots to stop bleeding. When you don't have enough platelets, you may bleed excessively or spontaneously, causing purpura, which refers to purple-colored spots on the skin that result from bleeding under the skin.

In ITP, the immune system mistakenly attacks and destroys platelets, leading to their decreased levels in the blood. This condition can occur at any age but is more common in children following a viral infection, and in adults after the age of 30-40 years. Symptoms may include easy or excessive bruising, prolonged bleeding from cuts, spontaneous bleeding from the gums or nose, blood blisters, and small red or purple spots on the skin (petechiae).

Depending on the severity of thrombocytopenia and the presence of bleeding symptoms, ITP treatment may include observation, corticosteroids, intravenous immunoglobulin (IVIG), or other medications that modify the immune system's response. In severe cases or when other treatments are ineffective, surgical removal of the spleen (splenectomy) might be considered.

Eclampsia is a serious pregnancy complication characterized by the onset of seizures or convulsions in a woman who has already developed preeclampsia, which is a condition marked by high blood pressure and damage to organs such as the liver and kidneys. Eclampsia can occur before, during, or after delivery and is considered a medical emergency that requires immediate treatment. It can pose significant risks to both the mother and the baby, including premature birth, fetal growth restriction, and even maternal and fetal death.

The exact causes of eclampsia are not fully understood, but it is thought to be related to problems with the placenta and abnormal blood vessel development in the uterus. Risk factors for developing eclampsia include preexisting medical conditions such as chronic hypertension or diabetes, a history of preeclampsia or eclampsia in previous pregnancies, multiple gestation (carrying more than one baby), and certain genetic factors.

Treatment for eclampsia typically involves delivering the baby as soon as possible to prevent further complications. In some cases, medication may be given to manage seizures and prevent their recurrence. Close monitoring of both the mother and the baby is essential to ensure the best possible outcomes.

Platelet aggregation is the clumping together of platelets (thrombocytes) in the blood, which is an essential step in the process of hemostasis (the stopping of bleeding) after injury to a blood vessel. When the inner lining of a blood vessel is damaged, exposure of subendothelial collagen and tissue factor triggers platelet activation. Activated platelets change shape, become sticky, and release the contents of their granules, which include ADP (adenosine diphosphate).

ADP then acts as a chemical mediator to attract and bind additional platelets to the site of injury, leading to platelet aggregation. This forms a plug that seals the damaged vessel and prevents further blood loss. Platelet aggregation is also a crucial component in the formation of blood clots (thrombosis) within blood vessels, which can have pathological consequences such as heart attacks and strokes if they obstruct blood flow to vital organs.

I'm sorry for any confusion, but the term "Holy Roman Empire" is not a medical concept or term. It refers to a political entity that existed in Western and Central Europe from 962 to 1806. At its height, it was one of the most powerful states in Europe, encompassing modern-day Germany, Austria, the Czech Republic, Switzerland, and other territories. The Holy Roman Empire was not a nation-state in the modern sense but rather a complex collection of principalities, duchies, free cities, and bishoprics, each with its own ruler and degree of autonomy.

If you have any medical questions or concerns, I would be happy to help answer them!

Cooking and eating utensils are devices or tools used in the preparation, cooking, and serving of food. Here is a brief medical definition for some common types:

1. Cooking utensils: These include various tools and equipment used to prepare and cook food, such as knives, cutting boards, pots, pans, whisks, spatulas, colanders, and measuring cups/spoons. They help to chop, dice, mix, blend, stir, sauté, boil, fry, bake, or grill ingredients.
2. Eating utensils: These are devices used to consume food and include items like forks, spoons, knives, chopsticks, and straws. They aid in bringing food from the plate or bowl to the mouth and cutting or separating food into manageable pieces.

Proper cleaning and maintenance of cooking and eating utensils are essential to prevent cross-contamination of bacteria, viruses, or other microorganisms that can cause foodborne illnesses. Using clean utensils and following safe food handling practices can help minimize the risk of infection and promote overall health.

Food preservatives are substances added to foods to prevent or slow down spoilage caused by microorganisms such as bacteria, yeasts, and molds, or to retard quality deterioration due to oxidation or other chemical reactions. They work by inhibiting the growth of microorganisms, preventing enzymatic reactions that cause spoilage, or scavenging oxygen that can lead to food degradation. Examples of commonly used food preservatives include sodium benzoate, potassium sorbate, sulfites, and nitrites. It is important to note that while food preservatives play a crucial role in maintaining the safety and quality of our food supply, excessive consumption of certain preservatives may have adverse health effects.

I'm sorry for any confusion, but "Roman World" is not a medical term. It may refer to the geographical area, culture, or time period associated with the ancient Roman Empire. If you have any questions about medical terminology or concepts, I would be happy to help answer those!

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Clinical pharmacology is a branch of medicine that deals with the study of drugs and their interactions with living organisms. It involves understanding how drugs are absorbed, distributed, metabolized, and excreted by the body, as well as their therapeutic effects, side effects, and toxicity. Clinical pharmacology also encompasses the design and conduct of clinical trials to evaluate the safety and efficacy of new drugs in human subjects. The ultimate goal of clinical pharmacology is to optimize drug therapy for individual patients by considering factors such as age, sex, genetics, lifestyle, and comorbidities. In summary, clinical pharmacology is the application of pharmacological principles to the practice of medicine for the benefit of patients.

Sorbic acid is a chemical compound that is commonly used as a preservative in various food and cosmetic products. Medically, it's not typically used as a treatment for any specific condition. However, its preservative properties help prevent the growth of bacteria, yeast, and mold, which can improve the safety and shelf life of certain medical supplies such as ointments and eye drops.

The chemical structure of sorbic acid is that of a carboxylic acid with two double bonds, making it a unsaturated fatty acid. It's naturally found in some fruits like rowanberries and serviceberries, but most commercial sorbic acid is synthetically produced.

Food-grade sorbic acid is generally recognized as safe (GRAS) by the U.S. Food and Drug Administration (FDA), and it has a wide range of applications in food preservation, including baked goods, cheeses, wines, and fruit juices. In cosmetics, it's often used to prevent microbial growth in products like creams, lotions, and makeup.

It is important to note that some people may have allergic reactions to sorbic acid or its salts (sorbates), so caution should be exercised when introducing new products containing these substances into personal care routines or diets.

Congenital sideroblastic anemia X-linked sideroblastic anemia: This is the most common congenital cause of sideroblastic anemia ... congenital sideroblastic anemia, acquired clonal sideroblastic anemia, and acquired reversible sideroblastic anemia. All cases ... Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts ... Acquired reversible sideroblastic anemia Causes include excessive alcohol use (the most common cause of sideroblastic anemia), ...
"Orphanet: X linked sideroblastic anemia and spinocerebellar ataxia". www.orpha.net. Retrieved 2022-06-11. "Anemia sideroblastic ... X-linked sideroblastic anemia and spinocerebellar ataxia is a very rare genetic disorder which is characterized by mild ... "OMIM Entry - # 301310 - ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT". omim.org. Retrieved 2022-06-11. Pagon, R. A ... "X-linked sideroblastic anemia and ataxia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-11. Allikmets, Rando; ...
Contrary to other sideroblastic anemia, there are no ring sideroblasts in a bone marrow smear. Exposure to lead also can be ... Bottomley SS (2014). "Sideroblastic Anemias". In Greer JP, Arber DA, Glader BE, List AF, Means RT, Paraskevas F, Rodgers GM, ... This may be known as sideroblastic anemia. However, basophilic stippling is also seen in unrelated conditions, such as ... Anemia may result when the cell membranes of red blood cells become more fragile as the result of damage to their membranes. ...
SLC25A38 Anemia, sideroblastic, with ataxia; 301310; ABCB7 Anemia, sideroblastic, X-linked; 300751; ALAS2 Angelman syndrome; ... NRAMP2 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; GLRX5 Anemia, sideroblastic, pyridoxine- ... SCN5A Heinz body anemia; 140700; HBA2 Heinz body anemias, alpha-; 140700; HBA1 Heinz body anemias, beta-; 140700; HBB HELLP ... RPL5 Diamond-Blackfan anemia 7; 612562; RPL11 Diamond-Blackfan anemia 8; 612563; RPS7 Diamond-Blackfan anemia 9; 613308; RPS10 ...
2004). "Onset of X-linked sideroblastic anemia in the fourth decade". Haematologica. 89 (10): 1261-3. PMID 15477213. May BK, ... Furuyama K, Sassa S (2002). "Multiple mechanisms for hereditary sideroblastic anemia". Cell. Mol. Biol. (Noisy-le-grand). 48 (1 ...
Fiske, D.N. (1994). "Zinc-induced sideroblastic anemia: report of a case, review of the literature, and description of the ... Forman, W.B. (1990). "Zinc abuse: an unsuspected cause of sideroblastic anemia". West J Med. 152 (2): 190-192. PMC 1002314. ...
They are mostly observed in diseases such as myelodysplastic syndrome (MDS), sideroblastic anemia, hemolytic anemia, lead ... Only the finding of ring (or ringed) sideroblasts characterizes Sideroblastic anemia. Sears DA, Udden MM (2004). "Pappenheimer ... "Unidentified Inclusions within the Erythrocytes in Certain Gases of Febrile Anemia". Experimental Biology and Medicine. 56 (2 ...
GeneReviews/NCBI/NIH/UW entry on X-Linked Sideroblastic Anemia and Ataxia This article incorporates text from the United States ... Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants ... and one with sideroblastic anemia and severe iron overload". Blood Cells, Molecules & Diseases. 36 (2): 292-7. doi:10.1016/j. ... "A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia". Clinica Chimica Acta; International ...
... and a family history may indicate a hereditary form of sideroblastic anemia or Fanconi anemia. MDS most often develops without ... March 2003). "Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia". Blood. 101 (5): ... sideroblastic anemia), Jordans anomaly - vacuolization in all cell lines may be seen in Chanarin-Dorfman syndrome, ... While anemia is the most common cytopenia in MDS patients, given the ready availability of blood transfusion, MDS patients ...
This unusual pattern is also known as ringed sideroblastic anemia cells. The cause of neutropenia is still unclear; however, ... The anemia caused by copper deficiency is thought to be caused by impaired iron transport. Hephaestin is a copper containing ... Anemia and neutropenia typically resolve within six weeks of copper replacement. Copper deficiency can cause a wide variety of ... Another speculation for the cause of anemia is involving the mitochondrial enzyme cytochrome c oxidase (complex IV in the ...
Sideroblastic anemia or other severe forms of anemia may cause anisochromatism. It can also be seen after blood transfusions ...
Mutations in the GLRX5 gene have been associated with sideroblastic anemia, variant glycine encephalopathy (also known as non- ... Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. The GLRX5 gene ... Camaschella C (Oct 2008). "Recent advances in the understanding of inherited sideroblastic anaemia". British Journal of ... "The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload". Blood. 110 (4): 1353-8 ...
2003). "Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia". Blood. 101 (5): 1996- ...
MT-CO1 may be involved in the development of acquired idiopathic sideroblastic anemia. Mutations in mitochondrial DNA can cause ... Bröker S, Meunier B, Rich P, Gattermann N, Hofhaus G (November 1998). "MtDNA mutations associated with sideroblastic anaemia ... Mutations in this gene are associated with Leber's hereditary optic neuropathy (LHON), acquired idiopathic sideroblastic anemia ... acquired idiopathic sideroblastic anemia, Complex IV deficiency, colorectal cancer, sensorineural deafness, and recurrent ...
To diagnose Pearson Syndrome a physician can either collect a bone marrow biopsy and look for sideroblastic anemia, a symptom ... Pearson syndrome is a very rare mitochondrial disorder that is characterized by health conditions such as sideroblastic anemia ... Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other ... The syndrome also leads to anemia, low platelet count, and aplastic anemia. It may be confused with transient ...
Mutations in this gene can lead to an autosomal recessive form of sideroblastic anemia. GRCh38: Ensembl release 89: ...
GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia ABCB7+protein,+human at the U.S. National Library of ... Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia. ABCB7 has been shown to interact with ... Maguire A, Hellier K, Hammans S, May A (2002). "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense ... in X-linked sideroblastic anemia and ataxia (XLSA/A)". Hum. Mol. Genet. 8 (5): 743-9. doi:10.1093/hmg/8.5.743. PMID 10196363. ...
... lactic acidosis and sideroblastic anaemia (MLASA)". BMJ Case Reports. 2009: bcr0520091889. doi:10.1136/bcr.05.2009.1889. PMC ... lactic acidosis and sideroblastic anaemia (MLASA)". Journal of Medical Genetics. 44 (3): 173-80. doi:10.1136/jmg.2006.045252. ... The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia. Pseudouridine kinase ... "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is ...
... usually causing death in the first years of life X-linked sideroblastic anemia; skin paleness, fatigue, dizziness and enlarged ... Glucose-6-phosphate dehydrogenase deficiency, which causes nonimmune hemolytic anemia in response to a number of causes, most ...
For example, genetic mutations in pseudouridine synthases cause mitochondrial myopathy, sideroblastic anemia (MLASA) and ... causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303-1308. doi: ...
In cases of pathogenic NDUFB11 mutations, complex I deficiency with lactic acidosis and sideroblastic anemia has been found to ... "A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia". ...
"Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia". The ...
"Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification ... The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic ... GeneReviews/NIH/NCBI/UW entry on Thiamine-Responsive Megaloblastic Anemia or Rogers Syndrome SLC19A2+protein,+human at the U.S ... Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F (October 2010). "Thiamine-responsive megaloblastic anemia syndrome". ...
X-linked sideroblastic anemia or "X-linked dominant erythropoietic protoporphyria", associated with ALAS2 (aminolevulinic acid ... Previously known mutations in the ALAS2 resulted in a loss-of-function mutation causing X-linked sideroblastic anemia. ... Additionally, unlike the other condition the arises out of a mutation of the ALAS2 gene, there is no anaemia. XDEPP is ... "C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or ...
... leading to sideroblastic anemia. Isoniazid was found to significantly elevate the in vivo concentration of GABA and ... Aplastic anemia, thrombocytopenia, and agranulocytosis due to lack of production of red blood cells, platelets, and white blood ...
... modifications are also implicated in human diseases such as mitochondrial myopathy and sideroblastic anemia ( ...
One such disease is x-linked sideroblastic anemia which results in the appearance of red blood cells in the bone marrow. This ... 159: 567-8. SIDEROBLASTIC ANEMIAS -ALAS-2 defect disease Portal: Biology (Articles with short description, Short description ... The disease X-linked sideroblastic anemia is caused by mutations in the ALA synthase gene on chromosome X, whereas no diseases ...
Sideroblastic Anemias: Anemias Caused by Deficient Erythropoiesis at Merck Manual of Diagnosis and Therapy Professional Edition ... Caudill JS, Imran H, Porcher JC, Steensma DP (October 2008). "Congenital sideroblastic anemia associated with germline ... There are several kinds of anemia, produced by a variety of underlying causes. Anemia can be classified in a variety of ways, ... "Anemia of prematurity". Retrieved 2010-05-31. Aplastic anemia Archived 2009-04-22 at the Wayback Machine at Mount Sinai ...
1- Secondary anemias - Chronic infection/inflammation - Malignancy 2- Thalassaemia 3- Sideroblastic anaemia The serum iron and ... It is very important to distinguish iron deficit anemia from the anemia of chronic disorders so as to ensure specific treatment ... Sideropenic hypochromic anemia is primarily characterized by low serum iron concentration. Non-sideropenic hypochromic anemia ...
Multiple lipomas in the skin, sideroblastic anemia and pancytopenia in the metabolic system, or short stature might all be ...
... sideroblastic anemia or chronic disease. In iron deficiency anemia (microcytic anemia), it can be as low as 60 to 70 ... normocytic anemia (MCV within normal range) or macrocytic anemia (MCV above normal range). Normocytic anemia is usually deemed ... In patients with anemia, it is the MCV measurement that allows classification as either a microcytic anemia (MCV below normal ... In pernicious anemia (macrocytic), MCV can range up to 150 femtolitres. (as are an elevated GGT and an AST/ALT ratio of 2:1). ...
Find symptoms and other information about X-linked sideroblastic anemia. ... X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.X-linked sideroblastic anemia is an inherited ... resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked ... resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked ...
Congenital sideroblastic anemia X-linked sideroblastic anemia: This is the most common congenital cause of sideroblastic anemia ... congenital sideroblastic anemia, acquired clonal sideroblastic anemia, and acquired reversible sideroblastic anemia. All cases ... Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts ... Acquired reversible sideroblastic anemia Causes include excessive alcohol use (the most common cause of sideroblastic anemia), ...
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making ... medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/ X-linked sideroblastic anemia. ... Mutations in the ALAS2 gene cause X-linked sideroblastic anemia. The ALAS2 gene provides instructions for making an enzyme ... X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making ...
encoded search term (Sideroblastic Anemias) and Sideroblastic Anemias What to Read Next on Medscape ... Go to Anemia, Iron Deficiency Anemia, and Chronic Anemia for complete information on these topics. ... Case report of sideroblastic anemia caused by ingestion of coins. Am J Hematol. 2001 Feb. 66(2):126-9. [QxMD MEDLINE Link]. ... Sideroblastic Anemias Differential Diagnoses. Updated: Feb 01, 2021 * Author: Nandakumar Mohan, DO; Chief Editor: Emmanuel C ...
These images are a random sampling from a Bing search on the term "Sideroblastic Anemia." Click on the image (or right click) ...
E.A. Beck, G. Ziegler, R. Schmid, H. Lüdin; Reversible Sideroblastic Anemia Caused by Chloramphenicol. Acta Haematol 1 January ... Combined Phenotypic and Genotypic Analysis of Ringed Sideroblasts in Acquired Idiopathic Sideroblastic Anemia Acta Haematol ( ... Sideroblast Score: A Sensitive Indicator of Iron Deficiency and Hypoproliferative Anemia Acta Haematol (March,2009) ...
Classification of sideroblastic anemias. The sideroblastic anemias include both hereditary and acquired conditions, and the ... The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying ... be considered for young patients with this congenital sideroblastic anemia.. Refractory anemia with ring sideroblasts. What are ... In this issue of the journal, Kannengiesser et al.13 report on a study of 24 patients with congenital sideroblastic anemia who ...
Congenital forms of sideroblastic anemia constitute a subset of uncommon disorders within the wider spectrum of sideroblastic ... anemias, all of which are diagnosed by the presence of pathologic iron deposits in erythroblast mitochondria. The congenital ... Congenital forms of sideroblastic anemia constitute a subset of uncommon disorders within the wider spectrum of sideroblastic ... Sideroblastic anemia: diagnosis and management. Bottomley SS, Fleming MD. Bottomley SS, et al. Hematol Oncol Clin North Am. ...
No other cause of acquired sideroblastic anaemia was found, and neither iron nor pyridoxine therapy could correct this anaemia ... We report one case of acquired sideroblastic anaemia in a patient treated for Wilsons disease with triethylene tetramine ... Acquired sideroblastic anaemia during treatment of Wilsons disease with triethylene tetramine dihydrochloride L Condamine 1 , ... No other cause of acquired sideroblastic anaemia was found, and neither iron nor pyridoxine therapy could correct this anaemia ...
Sideroblastic Anemias - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... Anemia is usually microcytic in congenital sideroblastic anemia and macrocytic in acquired sideroblastic anemia. ... Congenital sideroblastic anemia Inherited forms of sideroblastic anemia are less common than acquired forms and usually occur ... Acquired sideroblastic anemia Most often, acquired sideroblastic anemias are part of a ...
... are a heterogeneous group of anaemic syndromes characterized by the presence of anaemia together with other clinical syndromes. ... Sideroblastic anaemia associated with ataxia. ENERCA , Anaemia , Sideroblastic anaemia associated with ataxia ... Sideroblastic Anaemia with ataxia (XLSA/A) is an autosomal recessive sideroblastic anaemia due to mutations of the ABCB7 gene. ... Sideroblastic Anaemia with ataxia (XLSA/A) is a autosomal recessive sideroblastic anaemia due to mutations of the ABCB7 gene. ...
Sideroblastic Anemia (D643). *Code D641 (Secondary sideroblastic anemia due to disease) when reported due to conditions listed ... Code D642 (Secondary sideroblastic anemia due to drugs or toxins) when reported due to conditions listed in the causation table ... Hemolytic Anemia (D589). Code D594 (Secondary hemolytic anemia) when reported due to conditions listed in the causation table ... II Hip fracture, anemia, osteoporosis M844 D649 M819. Code to M809. Hip fracture in Part II is reported on the same line with ...
FAMILIAL SIDEROBLASTIC ANÆMIA: PROBLEM OF Xg AND X CHROMOSOME INACTIVATION Weatherall DJ., Pembrey ME., Hall EG., Sanger R., ...
ICD-10 code D64.1 for Secondary sideroblastic anemia due to disease online definition ...
Clinical resource with information about X-linked sideroblastic anemia with ataxia and its clinical features, ABCB7, available ... X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and ... X-linked sideroblastic anemia with ataxia. Synonyms. Anemia sideroblastic and spinocerebellar ataxia; Pagon Bird Detter ... Unlike other forms of sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a potentially dangerous ...
The combination of HFE and ALAS2 gene mutations leads to more severe signs and symptoms of X-linked sideroblastic anemia by ... X-linked sideroblastic anemia. The Cys282Tyr mutation, which is a common cause of type 1 hereditary hemochromatosis (described ... may also increase the severity of the iron overload in X-linked sideroblastic anemia when it is inherited along with a mutation ...
Aplastic anemia. Thalassemia. Sideroblastic anemia. Hemolytic anemia. Post hemorrhagic anemia. Anemia of chronic diseases. ... Definition of sideroblastic anemia:. *Sideroblastic anemia indicates a group of disorders with the presentation of: *Anemia. ... Anemia:- Part 9 - Sideroblastic Anemia, and Anemia Due To Chronic Diseases. July 2, 2023HematologyLab Tests ... The patients will show pallor and splenomegaly in the sideroblastic anemia.. Lab findings of sideroblastic anemia are:. *The ...
Anemia is strictly defined as a decrease in red blood cell (RBC) mass. The function of the RBC is to deliver oxygen from the ... Pyridoxine may be useful in the treatment of certain patients with sideroblastic anemia, even though this is not a deficiency ... Patients with severe anemia should curtail their activity until the anemia is partially corrected. Transfusion can often be ... Anemia. Decreased production of red blood cells is suggested in certain patients with anemia. Bone marrow biopsy specimen ...
1:30-2:00, Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation. Mark D. Fleming, MD, Boston ... The severe anemia associated with hematologic disorders such as β thalassemia, myelodysplastic syndrome, and congenital ... dyserythropoietic anemia, arises from defects in late stage erythroid maturation (dyserythropoiesis). In contrast to anemias ...
The sideroblastic anemias comprise a heterogeneous group of acquired and congenital disorders which that have in c ... Sideroblastic Anaemia - Anaesthetic Considerations during Emergency Ophthalmic Surgeries. Dr. Shobha Ravishankar Abstract: The ... Shobha Ravishankar, "Sideroblastic Anaemia - Anaesthetic Considerations during Emergency Ophthalmic Surgeries", International ... Keywords: Sideroblastic anaemia, Congenital disease, Anaesthetic management, Haemolysis. Edition: Volume 8 Issue 10, October ...
A patient with features of Pearsons syndrome who presented with transfusion-dependent severe macrocytic anaemia, neutropenia, ... Anemia, Sideroblastic / complications * Anemia, Sideroblastic / genetics * Anemia, Sideroblastic / pathology * Base Sequence * ... A patient with features of Pearsons syndrome who presented with transfusion-dependent severe macrocytic anaemia, neutropenia, ...
Secondary Sideroblastic Anemia. *Sickle Cell Disease. *Skin Cancer. *Small Intestine Cancer. *Soft Tissue Sarcoma ...
Acquired sideroblastic anemia Macrocytosis in patients with COPD is attributed to excess cell water secondary to carbon dioxide ... Underdiagnosed: Iron Deficiency Anemia During Pregnancy * Small-Volume Blood Sample Tubes May Reduce Anemia and Transfusions in ... The most common cause of macrocytic anemia is megaloblastic anemia, which is the result of impaired DNA synthesis. Although DNA ... In patients with hemolytic anemia or posthemorrhagic anemia, the reticulocyte count increases. The reticulocyte, an immature ...
... sideroblastic anemia.. • Peripheral neuropathy, and optic neuropathy sometimes progressing to loss of vision [see Warnings and ... Myelosuppression (including anemia, leukopenia, pancytopenia, and thrombocytopenia) [see Warnings and Precautions (5.1)]; ... Myelosuppression (including anemia, leukopenia, pancytopenia, and thrombocytopenia) has been reported in patients receiving ...
Heme biosynthesis and its disorders: porphyrias and sideroblastic anemias. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. ...
X-linked sideroblastic anemia ... anemia X chromosome-linked sideroblastic anemia X-linked pyridoxine-responsive sideroblastic ... anemia XLSA Genetic Testing Registry: X- ... ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine ...
Tick Infestation,Anemia, Sideroblastic, And Spinocerebellar Ataxia,Abcd Syndrome. 5och_d Q9NUT2 ENSG00000197150 ABCB8 99.70 ... Sideroblastic, 1,Writing Disorder,Abcd Syndrome. 4ayt_a Q9NRK6 ENSG00000135776 ABCB10 99.80 1.70E-24 2.20E-28 240.60 1 1 0 0 0 ...
Acquired idiopathic sideroblastic anemia. AIS/ ISS. Abbreviated Injury Scale/Injury Severity Score. ...
... linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency ... and sideroblastic anaemia (MLASA) syndrome due to a YARS2 mutation, renal involvement manifested as tubulopathy (53). In a ... Sideroblastic Anemia, and Multisystem Failure. JIMD Rep. 28:49-57. 2016. View Article : Google Scholar : PubMed/NCBI ... and sideroblastic anemia 2. J Hum Genet. 59:229-232. 2014. View Article : Google Scholar : PubMed/NCBI ...

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