Mutation gene autosomal recessive anemia hemolytic. Medical search. Frequent questions

Acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and the familial form of porphyria cutanea tarda (PCT) follow an autosomal dominant inheritance pattern with low penetration. (medscape.com)
Mutations of alpha-spectrin are associated with recessive forms of HS, whereas mutations of beta-spectrin occur in autosomal dominant forms of HS. (medscape.com)
In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal. (medscape.com)
NA has been described as inherited as an autosomal recessive disorder, as an autosomal dominant disorder, and as part of an X-linked disorder called McLeod syndrome (MLS). (medscape.com)
Since that year, rarer autosomal dominant disease forms with variable penetrance with or without chromosome 9 abnormalities have also been described. (medscape.com)

Congenital erythropoietic porphyria is a rare, autosomal recessive disease caused by a mutation in the UROS gene, which encodes uroporphyrinogen III synthase. (standardofcare.com)
Aminolevulinic acid dehydratase deficiency porphyria (ADP), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and hepatoerythropoietic porphyria (HEP) are autosomal recessive. (medscape.com)
Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. (uic.es)
Hereditary hemochromatoses are subdivided into hereditary hemochromatosis (HH), hereditary hemolytic anemias and congenital atransferrinemia, whereas secondary hemochromatoses are subdivided into blood transfusion related type, iron therapy related type, hepatitis related type and African nutritional hemochromatosis caused by the intake of alcohol drinks prepared in iron containers (1). (biochemia-medica.com)
Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. (orpha.net)
Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. (wisdompanel.com)
Congenital GR deficiency is associated with acute haemolytic crisis after oxidant drugs of fava beans ingestion (favism). (enerca.org)

Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). (biomedcentral.com)
BACKGROUND AND AIMS: Glucose phosphate isomerase (GPI) deficiency is an extremely rare autosomal recessive disorder caused by mutations in the GPI gene. (bvsalud.org)

Homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13 is the cause of GPI deficiency. (biomedcentral.com)
Glucose-6-phosphate isomerase (GPI) deficiency (MIM 613470), one of hereditary nonspherocytic hemolytic anemias (HNSHA), is a rare autosomal recessive hereditary disease caused by homozygous or compound heterozygous mutations of GPI gene on chromosome 19q13 [ 1 ]. (biomedcentral.com)
Wilson disease (WD) [ 1 ] is a disorder of copper metabolism mediated by autosomal recessive inherited mutations of the ATP7B gene on chromosome 13q. (biomedcentral.com)
The genes coding for alpha and beta globin chains are located on chromosome 16 and chromosome 11, respectively. (medscape.com)
HS is described in patients with translocation of chromosome 8 or deletion of the short arm of chromosome 8, where the ankyrin gene is located. (medscape.com)
The most common subtype is type 1 characterized by Cys282Tyr mutation of the HFE gene located on the short arm of chromosome 6. (biochemia-medica.com)
In 2001, a deletion mutation in the gene (now known as VPS13A) localized to chromosome band 9q21 was identified as the site for the defect generating the autosomal recessive form of NA. (medscape.com)
Of family members in this research who presented with epilepsy, 70-80% had large deletions in the NA gene, now known as VPS13A , on chromosome 9. (medscape.com)
The gene causing GSD VII (M subunit gene) has been mapped to chromosome 1. (mhmedical.com)
The culprit gene is on chromosome 6, known as HFE. (targetwoman.com)

Treatments for chronic hemolytic anemia include blood transfusions, splenectomy, and supportive therapy. (biomedcentral.com)
Here, we reported a patient with compound heterozygous mutation of the GPI gene who presented chronic hemolytic anemic features and reviewed correlative literature. (biomedcentral.com)
Pyruvate Kinase (PK) Deficiency presents as a chronic, intermittent, hemolytic anemia. (wisdompanel.com)
Severe, chronic hemolytic disease, as well as various manifestations of vaso-occlusive disease, characterize sickle cell disease. (uchicago.edu)
Patients share chronic anemia of variable severity and jaundice, frequently associated with splenomegaly and/or hepatomegaly. (orpha.net)
Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia. (wisdompanel.com)
Supportive therapy is important in chronic anemia. (exploremyplan.com)
Pyruvate Kinase Deficiency, now identified in a number of breeds, leads to chronic severe hemolytic anemia, weakness, and hepatosplenomegaly causing bone marrow and liver failure in mature animals. (dogwellnet.com)
Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative, hemolytic anemia. (dogwellnet.com)
Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. (beds.ac.uk)
Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation as well as activating pathways that contribute to the pathophysiology directly. (beds.ac.uk)
We report the case of a 5-year-old girl suffering from chronic haemolytic anaemia. (sajch.org.za)
Consider hemolysis in patients with acute or chronic anemia in whom an obvious cause (e.g., bleeding) is not apparent. (amboss.com)
Sickle cell disease results in chronic hemolytic anemia, systemic inflammation, small vessel vaso-occlusion, and endothelial cell dysfunction. (medicalhomeportal.org)

Approximately 50% of patients with severe recessive HS have a point mutation at codon (969) that results in an amino acid substitution (alanine [Ala]/aspartic acid [Asp]) at the corresponding site in the alpha-spectrin protein. (medscape.com)
Abnormal sickle hemoglobin is formed from a single point mutation in the beta-globin gene, HBB, which results in substitution of valine for glutamine at position 6 on the beta helix. (medicalhomeportal.org)
Patient 9[2] Description Allele 1 and 2: point mutation in the exon 2 leading to a Description premature stop codon Date 05-Jun-2003 (Rel. (lu.se)

In a patient with recurrent jaundice since birth, mutations in the GPI gene associated with HNSHA should be evaluated. (biomedcentral.com)
It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. (uic.es)
Anaemia, excretion of protein in the urine and jaundice are the consequences, so that the kittens usually die within the first week of life. (laboklin.co.uk)
In CDA II, the most frequent type, anemia and/or jaundice is usually detected in children or young adults with splenomegaly. (orpha.net)
Patients tend to develop hemolytic anemia (with jaundice as a result of partial erythrocyte phosphofructokinase deficiency) and myogenic hyperuricemia. (mhmedical.com)
Rule out hemolysis in any patient with unexplained anemia , even if the urine dipstick test is negative for blood and jaundice is not evident on physical examination . (amboss.com)

PKD is caused by alterations (mutations) in the PKLR gene, which lead to a deficiency of the enzyme pyruvate kinase. (olympusresearchglobal.com)
Pyruvate kinase deficiency is caused by an alteration in the PKLR gene. (olympusresearchglobal.com)
The PKLR gene contains instructions for creating (encoding) a specialized protein (enzyme) known as pyruvate kinase. (olympusresearchglobal.com)
Genetic analysis showing PKLR mutations is diagnostic. (olympusresearchglobal.com)
PIRUVATKINASE DEFICIT (PKDEF): N / N - Homozygous for the normal allele (both copies of the PKLR gene do not contain the mutation). (mainecoon-russia.ru)
k / k - Homozygote for the mutant allele (both copies of the PKLR gene contain the mutation). (mainecoon-russia.ru)
Genetic testing of the PKLR gene will reliably determine whether a dog is a genetic Carrier of pyruvate kinase deficiency (terrier type). (pawprintgenetics.com)
Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the PKLR gene mutation. (pawprintgenetics.com)
Testing for PK deficiency can be done by measuring PK activity in RBCs (biochemical testing) and/or by identifying a pathogenic PKLR gene mutation (genetic testing). (exploremyplan.com)
The diagnosis of PKD is confirmed in a patient with hemolytic anemia (or compensated hemolysis) who has laboratory evidence of reduced RBC PK enzymatic activity and/or genetic evidence or pathogenic PKLR mutations. (exploremyplan.com)

GR deficiency is an autosomal recessive genetic disorder. (enerca.org)

In sickle cell anemia, a single gene mutation results in the substitution of valine for glutamic acid in the sixth amino acid position of the beta globin chain, creating hemoglobin S. Under conditions of deoxygenation, hemoglobin S forms a poorly soluble tetramer that that causes red blood cells to deform into sickle shapes. (uchicago.edu)
Sickle cell anemia is a homozygous-recessive disorder, that is, the individual receives two mutant genes that code for the variant beta globin chain. (medscape.com)
Sickle cell disease refers to a specific genotype in which a person inherits one copy of the HbS gene and another gene coding for a qualitatively or quantitatively abnormal beta globin chain. (iprojectmaterials.com)
[7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. (drpareshmajumder.com)
Sickle cell disease (SCD) is a group of inherited disorders that results from a genetic mutation in the beta-globin gene forming sickle hemoglobin, Hb S. Hb S polymerizes under deoxygenated conditions in red blood cells giving them an abnormal "sickle" shape. (medicalhomeportal.org)
Sickle cell disease is inherited in an autosomal recessive manner when patients have 2 abnormal beta-globin genes and at least 1 of the beta-globin mutations is Hb S. Hb S can also be inherited with other mutations such as Hb C (Glu6Lys) or beta thalassemia, which results in a sickle phenotype. (medicalhomeportal.org)

He suffered from moderate hemolytic anemia (hemoglobin levels ranging from 62 to 91 g/L) associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. (biomedcentral.com)
Screening should include hemoglobin electrophoresis, particularly in individuals with anemia, red blood cell abnormalities, and/or morbidity suggestive of disease. (cdc.gov)
Sickle cell disease encompasses several entities: sickle cell anemia (SS), sickle cell-hemoglobin C (SC) disease, and sickle cell-beta-thalassemia. (uchicago.edu)
In 1949, Itano and Pauling described the association of sickle cell anemia with abnormal hemoglobin Hb S, which could be differentiated from Hb A by electrophoresis. (medscape.com)
About 10% of African Americans have an abnormal hemoglobin gene. (medscape.com)
In this case of homozygous hereditary hemochromatosis and beta-thalassemia minor coinheritance, serum ferritin concentration, transferrin saturation, hemoglobin electrophoresis and HFE gene Cys282Tyr polymorphism analysis proved to be crucial for the relatively fast establishment of accurate diagnosis. (biochemia-medica.com)
Oxygen affinity of hemoglobin is therefore increased, as is the production of new erythrocytes, resulting in compensated anemia. (mhmedical.com)
Sickle cell anemia (HbSS) refers to patients who are homozygous for the HbS gene, while heterozygous forms may pair HbS with genes coding for other types of abnormal hemoglobin such as hemoglobin C, an autosomal recessive mutation which substitutes lysine for glutamic acid. (iprojectmaterials.com)
These should be specified for each patient after a meticulous assessment of their tolerance regarding anemia, quality of life, and physical activity, rather than a measure of their absolute hemoglobin levels. (exploremyplan.com)
He underwent laboratory examination for macrocytic anemia (hemoglobin, 58 g/L), proteinuria (2+) and hematuria (103/HP). (biomedcentral.com)
Some authorities also consider a relative anemia to exist when a hemoglobin or hematocrit above that cutoff point is insufficient to meet tissue oxygen demand. (msdmanuals.com)
Evaluation of Anemia Anemia is a decrease in the number of red blood cells (RBCs) as measured by the red cell count, the hematocrit, or the red cell hemoglobin content. (msdmanuals.com)
[1] Often there is mild to severe anemia (low red blood cells or hemoglobin). (drpareshmajumder.com)
Hemolysis can either be caused by abnormalities in RBCs ( hemoglobin , the RBC membrane, or intracellular enzymes), which is called intrinsic hemolytic anemia , or by external causes (immune-mediated or mechanical damage), which is called extrinsic hemolytic anemia . (amboss.com)
Hb S disease Hemoglobin S disease SCD (medical abbreviation) Sickle cell disorders (a broad group of conditions that includes sickle cell anemia) The convention for indicating the composition of hemoglobin types in the red cells of an individual is to use an acronym listing the types in decreasing proportion or amount. (medicalhomeportal.org)

The clinical phenotype and severity of symptoms vary greatly and include nonimmune hydrops fetalis in utero, scarring and deformities, hemolytic anemia, corneal scarring, and blindness. (standardofcare.com)
Please note: It is possible that disease signs similar to the ones caused by the Pyruvate Kinase Deficiency mutation could develop due to a different genetic or clinical cause. (wisdompanel.com)
All of these manifestations of sickle cell disease can produce many of the clinical features of sickle cell anemia, but this paper will concentrate on sickle cell anemia (SS). (uchicago.edu)
gif A74T mutation - the connection of this mutation with the clinical manifestation of the disease in Maine Coons has not been proven. (mainecoon-russia.ru)
A homozygous form of Cys282Tyr mutation has been detected in approximately 83% of all HH cases with clinical manifestations (3). (biochemia-medica.com)
Clinical findings during a veterinary exam include severe anemia, hardening of the bones, and an enlarged spleen and liver. (pawprintgenetics.com)
Please note: It is possible that disease signs similar to the ones caused by the PKD mutation could develop due to a different genetic or clinical cause. (wisdompanel.com)
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes. (cdc.gov)

The inheritance pattern for hemoglobinopathies is autosomal-recessive (a mendelian pattern). (medscape.com)
PKD follows an autosomal recessive inheritance pattern. (exploremyplan.com)

Since the anemia results from the premature breakdown of red blood cells (hemolysis), it is known as hemolytic anemia. (medlineplus.gov)
Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). (blogspot.com)

CONCLUSION: Overall, the novel compound heterozygous variants in the GPI gene contributed to the etiology of the disease. (bvsalud.org)
N / HCMmc - Heterozygous for the mutant allele (one of the copies of the MYBPC3 gene contains the A31P mutation). (mainecoon-russia.ru)
7] About 8% of African Americans are heterozygous for Hb S. In the United States, sickle cell anemia primarily occurs in the Black population, with approximately 0.2% of African-American children afflicted by this disease. (medscape.com)
Comprehensive genetic analyses of peripheral blood-derived DNA demonstrated heterozygous variants of methylmalonic aciduria type C and homocystinuria ( MMACHC ) and amnionless ( AMN ) genes in our two patients, respectively. (biomedcentral.com)
Hereditary transmission is autosomal recessive and an individual can be heterozygous for the disorder (healthy carrier with one gene mutated) and homozygous or compound heterozygote (affected individual with two genes mutated). (enerca.org)
Heterozygous and homozygous mutations in the NLRP1 gene (17p13) have been associated with this condition in several families. (arizona.edu)

Hemolytic anemia can be mild or severe, with resultant splenomegaly and osseous fragility. (medscape.com)
CDA I patients have a moderate macrocytic anemia with frequent splenomegaly and occasional hepatomegaly. (orpha.net)

Fanconi anemia (FA) is the most prevalent inherited bone marrow failure (BMF) syndrome. (bvsalud.org)
Omenn syndrome is the result of mutations in the genes coding for recombinases (recombination activating genes). (medscape.com)
Nijmegen breakage syndrome (NBS) is also an autosomal recessive chromosomal instability syndrome. (medscape.com)
Ataxialike disorder (ATLD) syndrome involves a mutation in meiotic recombination 11 homolog (MRE11). (medscape.com)
All of the syndromes under the NA umbrella are distinguished from the Bassen-Kornzweig syndrome, an autosomal recessive disorder of childhood in which abetalipoproteinemia and acanthocytosis occur along with steatorrhea, retinitis pigmentosa, and cerebellar ataxia. (medscape.com)
Acanthocytosis has also been associated with the rare hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome, a disease of childhood akin to Hallervorden-Spatz disease and a defect in the gene for pantothenate kinase. (medscape.com)
An adult NA syndrome due to an X-linked gene defect is known that largely excludes females. (medscape.com)
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. (exeterlaboratory.com)
The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. (bvsalud.org)

Hemolytic anemia should be suspected in patients with anemia and laboratory findings of hemolysis (e.g., elevated indirect bilirubin and lactate dehydrogenase , reticulocytosis , and decreased haptoglobin levels). (amboss.com)

Immunodeficiency 10 is an autosomal recessive disorder presenting with iris hypoplasia, muscular hypotonia and nonprogressive myopathy, recurrent bacterial infections, autoimmune hemolytic anemia, hypohidrosis and nail dysplasia caused by the mutation of stromal interaction molecule 1 gene ( STIM1 ). (irdrjournal.com)
See also " Sickle cell disease ", " Paroxysmal nocturnal hemoglobinuria ", and " Autoimmune hemolytic anemia . (amboss.com)

Ataxia-telangiectasia (AT) is a rare, autosomal recessive, neurodegenerative disorder in which the diagnosis is obvious when both ataxia and telangiectasia are present. (medscape.com)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
See " Diagnosis of anemia " for details on the general approach for a patient with anemia . (amboss.com)

Hereditary hemochromatosis is an autosomal recessive disorder. (biochemia-medica.com)

A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation Hodgkin lymphoma B-cell lymphoma lymphoid granulomatosis hemophagocytic lymphohistiocytosis and smooth muscle tumor. (globalgenes.org)

HCMmc / HCMmc - Homozygous for the mutant allele (both copies of the MYBPC3 gene contain the A31P mutation). (mainecoon-russia.ru)
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (nih.gov)

Animals with mild anemia can live without attracting attention to themselves, and the disease is detected only with a detailed examination. (mainecoon-russia.ru)
CDA III is a very rare subtype characterized by mild hemolytic anemia and a predisposition to retinal angioid streaks, gammopathies and myeloma. (orpha.net)
A full blood count revealed a normocytic, hypochromic anaemia with a mild thrombocytopenia and leuko-erythroblastic reaction (left shift and presence of nucleated red cells). (sajch.org.za)

although, some hemolytic anemias have more specific findings (e.g., thrombosis in paroxysmal nocturnal hemoglobinuria ). (amboss.com)

Pyruvate kinase deficiency (PKD) is a rare genetic disorder characterized by the premature destruction of red bloods, which is called hemolytic anemia. (olympusresearchglobal.com)
A carrier cat with one copy of the Pyruvate Kinase Deficiency mutation can be safely bred with a clear cat with no copies of the Pyruvate Kinase Deficiency mutation. (wisdompanel.com)
About half of the kittens will have one copy (carriers) and half will have no copies of the Pyruvate Kinase Deficiency mutation. (wisdompanel.com)
Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats. (wisdompanel.com)
Pyruvate kinase deficiency is a hereditary disease with an autosomal recessive mode of inheritance, accompanied by hemolytic anemia. (mainecoon-russia.ru)
Pyruvate kinase deficiency leads to erythrocyte instability, periodically manifested by hemolytic anemia. (mainecoon-russia.ru)
A mutation associated with a deficiency of the enzyme pyruvate kinase in domestic cats, as described by Grahn et al. (mainecoon-russia.ru)
Pyruvate kinase deficiency (terrier type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)
Hemolytic anemia caused by hereditary pyruvate kinase deficiency in the West Highland White Terrier dog. (pawprintgenetics.com)
Schaer M, Harvey JW, Calderwood-Mays M, Giger U. Pyruvate kinase deficiency causing hemolytic anemia with secondary hemochromatosis in Cairn terrier. (pawprintgenetics.com)
Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. (wisdompanel.com)

A (p.Val101Met) in exon 4 and a frameshift mutation c.812delG (p.Gly271Glufs*131) in exon 10. (biomedcentral.com)
Mutation p.Gly271Glufs*131 is a novel frameshift null mutation in GPI deficiency. (biomedcentral.com)
4] Because most patients with NBS are of Slavonic origin, this frameshift mutation came to be called the Slavonic mutation. (medscape.com)
Herein, we present a new case of STIM1 mediated immunodeficiency, carrying a novel frameshift mutation. (irdrjournal.com)

Rare inherited autosomal recessive disease with hemolytic anemia and marked skin photosensitivity. (standardofcare.com)
Most individuals with PKD have different variants affecting each copy of the disease genes (compound heterozygotes). (olympusresearchglobal.com)
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. (wisdompanel.com)
2005. The presence or absence of the A31P mutation does not indicate the presence or absence of the disease, but only characterizes the degree of risk of its development. (mainecoon-russia.ru)
In those cases when the feline body is exposed to extreme stress, the action of infection or certain medications, anemia is severe, and the outcome of the disease is doubtful. (mainecoon-russia.ru)
Special mention should be made of knitting cats with PK-deficiency anemia: even if the disease did not manifest itself, pregnancy leads to a sharp exacerbation. (mainecoon-russia.ru)
Different genes within a population determine the frequency of sickle cell disease at birth. (medscape.com)
The hemolytic disease that ensues can be lethal. (laboklin.co.uk)
While dogs can live for several years with this disease, they typically die from severe anemia or liver failure by 5 years of age. (pawprintgenetics.com)
In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation , there is a risk of having affected pups. (pawprintgenetics.com)
Many of these disorders mimic classic forms of disease (in the absence of immunodeficiency) such as celiac sprue, inflammatory bowel disease (IBD), and pernicious anemia but differ in pathogenesis and are often unresponsive to conventional therapies. (medscape.com)
Inheritance of sickle cell disease predisposes to four main types of crises: vaso-occlusive, splenic sequestration, aplastic and hemolytic. (iprojectmaterials.com)
The genetic-mutation sites were different, as were the pathogenesis and prognosis of the disease. (biomedcentral.com)
Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease. (globalgenes.org)
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. (globalgenes.org)
LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas. (blogspot.com)
The term sickle cell anemia is reserved for patients who make only the abnormal Hb S (e.g., homozygous Hb SS disease or sickle beta zero thalassemia). (medicalhomeportal.org)

Approximately one in 9 persons have one abnormal Hemochromatosis gene which works out to 11% of the US population. (targetwoman.com)
Between 1/200 and 1/400 individuals have two abnormal genes for Hemochromatosis and no normal gene. (targetwoman.com)
As it is an autosomal recessive condition, siblings of the Hemochromatosis patients are at 25% risk to be affected as well. (targetwoman.com)

Mutations lead to copper transporter dysfunction with subsequent copper deposition in the liver and other organs. (biomedcentral.com)
One of the four glycogen storage diseases characterized by phosphofructokinase deficiency in the muscles and associated with abnormal deposition of glycogen in muscle tissues, exercise intolerance, and anemia. (mhmedical.com)

Anemia - patients with HbSS have a hemolytic anemia, which is generally well-tolerated unless a splenic sequestration episode or aplastic crisis occurs. (uchicago.edu)
The major complications of HS are aplastic or megaloblastic crisis, hemolytic crisis, and cholecystitis and cholelithiasis. (medscape.com)

Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. (medlineplus.gov)

The inheritance of 2 mutant alleles for the gene encoding the enzyme uroporphyrinogen III synthase leads to accumulation of porphyrins of the isomer I type that are biologically useless but cause cutaneous photosensitivity characterized by blisters, erosions, and scarring of light-exposed skin. (medscape.com)
Erythropoietic porphyria is caused by autosomal recessive inheritance of genes that encode abnormal uroporphyrinogen III synthase (UROS) enzyme protein. (medscape.com)
The resultant deficient activity of this enzyme leads to hemolytic anemia, cutaneous photosensitivity, and their complications. (medscape.com)
[ 1 ] C73R mutations lead to premature degradation of the UROS enzyme by disturbing protein stability. (medscape.com)
This gene provides instructions for making an enzyme called triosephosphate isomerase 1. (medlineplus.gov)
An insufficient amount of the enzyme in the body leads to the development of anemia, that is, a reduction in the number of red blood cells. (mainecoon-russia.ru)
It is linked to mutations of the GR gene, encoding the GR enzyme. (enerca.org)
This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). (blogspot.com)

Two major pathologic features characterize SCD: hemolytic anemia and vaso-occlusion. (uchicago.edu)

Pregnancy and hemolytic crises also warrant supplementation. (exploremyplan.com)
In cases of severe haemolytic crises red cell transfusions may be necessary. (enerca.org)

The c.812delG (p.Gly271Glufs*131) variant may be a novel mutation of the GPI gene. (biomedcentral.com)
For autosomal recessive disorders, cats with two copies of the variant are at risk of developing the condition. (wisdompanel.com)
Splenectomy usually results in full control of HS, except in the unusual autosomal recessive variant of the disorder. (medscape.com)
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases. (cdc.gov)

In this research, the proband displaying typical manifestations of haemolytic anaemia and his family members were recruited to analyse the pathogenicity of the detected variants. (bvsalud.org)

Deeper analyses revealed that the Gly87Cys missense mutation led to steric hindrance. (bvsalud.org)

Clinically, HS shows marked heterogeneity, ranging from an asymptomatic condition to fulminant hemolytic anemia. (medscape.com)

Sickle cell anaemia (SCA), pain, health-related quality of life (HRQoL), World Health Organization Quality of Life-Bref (WHOQoL-Bref). (academicjournals.org)

The novel gene variants identified in the present study has further expanded the mutational spectrum of GPI deficiency, which can better guide family counselling. (bvsalud.org)
Genotype variants: N / N - Homozygous for the normal allele (both copies of the MYBPC3 gene do not contain the A31P mutation). (mainecoon-russia.ru)

Ans ) Genetic polymorphism occurs when two or more discontinuous forms or phases of a species coexist in the same habitat in such large numbers that the rarest of them cannot be perpetuated by recurrent mutations. (ignouhelpcenter.com)
In layman's terms, genetic polymorphism is the presence in the same population of two or more alleles at the same locus, where the frequency of the rarer allele is always more than one percent and the rarer allele is maintained in the population, not just by recurrent mutations. (ignouhelpcenter.com)

Two autosomal recessive syndromes involving DNA repair indicate some interaction between the immune system and neurologic function. (medscape.com)
Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively). (biomedcentral.com)

CDA II is caused by biallelic mutations in the SEC23B gene. (uic.es)
Most cases of CDA II are caused by mutations in the SEC23B gene (20p11.23), coding for a coating protein involved in reticulum-Golgi trafficking. (orpha.net)

Anemia, proteinuria, and hematuria continued after infusion of washed red blood cells (RBCs), methylprednisolone administration, and anti-infection treatment after hospital admission. (biomedcentral.com)
Hemolytic anemia is characterized by the breakdown of red blood cells ( RBCs ). (amboss.com)

Anatomy13

Organisms7

Diseases93

Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Psychiatry and Psychology3

Phenomena and Processes75

Anthropology, Education, Sociology and Social Phenomena2

Information Science4

Named Groups5

Health Care5

Geographicals4

Dominant5

Congenital7

Rare autosomal recessive disorder2

Chromosome10

Chronic14

Point mutation3

Jaundice6

PKLR10

Deficiency is an autosomal1

Beta globin6

Hemoglobin15

Clinical8

Inheritance pattern2

Known as hemolytic anemia2

Heterozygous6

Splenomegaly2

Syndrome9

Hemolysis1

Autoimmune hemoly2

Diagnosis3

Hereditary hemochromatosis1

Primary immunodeficiency1

Mutant allele2

Mild3

Paroxysmal Nocturnal Hemo1

Pyruvate kinase11

Frameshift4

Disease17

Hemochromatosis3

Deposition2

Crisis2

Disorder characterized1

Enzyme8

Vaso-occlusion1

Crises2

Variant4

Manifestations1

Missense mutation1

Asymptomatic1

Sickle cell an1

Variants2

Recurrent2

Neurologic2

SEC23B2

RBCs2