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

Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). (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)
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)
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 type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. (uic.es)
BACKGROUND AND AIMS: Glucose phosphate isomerase (GPI) deficiency is an extremely rare autosomal recessive disorder caused by mutations in the GPI gene. (bvsalud.org)
Sickle cell anemia is an inherited blood disorder . (carenity.co.uk)
Folate-responsive megaloblastic anemia (MEGAF) is an autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. (nih.gov)
This is an autosomal recessive disorder. (iprojectmaterials.com)
The β-thalassemias represent an autosomal recessive disorder with reduced production or absence of β-globin chains resulting in anemia. (iprojectmaterials.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)
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)

See also " Sickle cell disease ", " Paroxysmal nocturnal hemoglobinuria ", and " Autoimmune hemolytic anemia . (amboss.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)

Hemolytic anemia can be mild or severe, with resultant splenomegaly and osseous fragility. (medscape.com)
It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. (uic.es)

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)
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)

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)
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)

In a patient with recurrent jaundice since birth, mutations in the GPI gene associated with HNSHA should be evaluated. (biomedcentral.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)

Homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13 is the cause of GPI deficiency. (biomedcentral.com)
The c.812delG (p.Gly271Glufs*131) variant may be a novel mutation of the GPI gene. (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)
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)
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)
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)
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)

CDA II is caused by biallelic mutations in the SEC23B gene. (uic.es)

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)
Consider hemolysis in patients with acute or chronic anemia in whom an obvious cause (e.g., bleeding) is not apparent. (amboss.com)

Inheritance of sickle cell disease predisposes to four main types of crises: vaso-occlusive, splenic sequestration, aplastic and hemolytic. (iprojectmaterials.com)

CONCLUSION: Overall, the novel compound heterozygous variants in the GPI gene contributed to the etiology of the disease. (bvsalud.org)

These general, nonspecific tests may indicate common underlying conditions, including iron deficiency and inherited anemias. (cdc.gov)
Iron deficiency anemia accounts for 75-95% of the cases of anemia in pregnant women. (medscape.com)
Clinical symptoms of iron deficiency anemia include fatigue, headache, restless legs syndrome, and pica (in extreme situations). (medscape.com)
The clinical consequences of iron deficiency anemia include preterm delivery, perinatal mortality, and postpartum depression. (medscape.com)
Go to Iron Deficiency Anemia for complete information on this topic. (medscape.com)
Patients with vitamin B-12 deficiency need further workup to determine the level of intrinsic factor to exclude pernicious anemia. (medscape.com)
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)

The most severe form, the homozygous form (2 copies of the gene) is the most common form. (carenity.co.uk)
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)

Since that year, rarer autosomal dominant disease forms with variable penetrance with or without chromosome 9 abnormalities have also been described. (medscape.com)

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

This would involve introducing a functional hemoglobin gene into the bone marrow stem cells of affected patients so that the hemoglobin produced is once again functional. (carenity.co.uk)

See " Diagnosis of anemia " for details on the general approach for a patient with anemia . (amboss.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)
Hemolytic anemia is characterized by the breakdown of red blood cells ( RBCs ). (amboss.com)

Screening should include hemoglobin electrophoresis, particularly in individuals with anemia, red blood cell abnormalities, and/or morbidity suggestive of disease. (cdc.gov)

Go to Anemia, Emergent Management of Acute Anemia, and Chronic Anemia for complete information on these topics. (medscape.com)

If the patient has severe symptoms of anemia or a life-threatening cause is suspected (i.e. (amboss.com)

Treatments for chronic hemolytic anemia include blood transfusions, splenectomy, and supportive therapy. (biomedcentral.com)

Treatment with oral folate corrects the anemia and normalizes homocysteine (summary by Svaton et al. (nih.gov)

Normal physiologic processes often cause normocytic-normochromic anemia at an expected time after birth in term and preterm infants. (msdmanuals.com)

The hemolytic anemia of erythropoietic porphyria can cause hypersplenism in more serious cases. (medscape.com)

The simplest approach to the differential diagnoses of anemia is to differentiate anemias by the mean corpuscular volume (MCV), measured in fL. (medscape.com)

He suffered from moderate hemolytic anemia (hemoglobin levels ranging from 62 to 91 g/L) associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. (biomedcentral.com)

Sickle cell anemia is an inherited genetic disease of the blood . (carenity.co.uk)
Sickle cell anemia is the most frequent genetic disease throughout the world. (carenity.co.uk)
The disease is present in a patient who has received two copies of the defective gene from their parents leading to the production of non-functional hemoglobin S involved in sickle cell anemia, instead of healthy hemoglobin A. It is autosomal recessive transmission (affecting both girls and boys) recessive. (carenity.co.uk)
On the other hand, if the parents only have 1 copy of the gene, the patient is said to be a healthy carrier and has a form of the disease called heterozygous . (carenity.co.uk)
The management of sickle cell anemia is based on the prevention of complications because there is no cure for this disease. (carenity.co.uk)
Sickle cell disease results in chronic hemolytic anemia, systemic inflammation, small vessel vaso-occlusion, and endothelial cell dysfunction. (medicalhomeportal.org)
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 resultant deficient activity of this enzyme leads to hemolytic anemia, cutaneous photosensitivity, and their complications. (medscape.com)

Several decades ago, the majority of individuals with sickle cell anemia died during childhood. (medicalhomeportal.org)

A form of hemolytic anemia that occurs in repeated episodes. (nih.gov)

Hemolytic anemia was considered, and blood transfusion (once, at 56-day-old) and other treatments, including protein iron succinate oral solution, vitamin C, vitamin B12, and prednisone acetate, were administered at the local hospital. (biomedcentral.com)

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)

Although red blood cell (RBC) mass increases during pregnancy, plasma volume increases more, resulting in a relative anemia. (medscape.com)
Single cell anemia is diagnosed using blood tests. (carenity.co.uk)
The spleen will therefore not be available to make new red blood cells, which will aggravate the anemia. (carenity.co.uk)
Because they cannot be replaced fast enough, the blood is chronically short of red blood cells, a condition called anaemia. (iprojectmaterials.com)
HFE gene product is responsible for the blood iron uptake into the duodenal crypt cells. (biochemia-medica.com)

Among African refugees resettled in Australia, a study showed that 19% of adults (n=235) had anemia, while another study showed that 37% of adult Southeast Asian refugees resettled to the United (n=521) had anemia [ 1 , 2 ]. (cdc.gov)

Erythropoietic porphyria (EP) is a rare inborn error of porphyrin-heme synthesis inherited that is as an autosomal recessive trait. (medscape.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)

Gene(s) directly associated with this condition or phenotype. (nih.gov)

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