Anemia, Dyserythropoietic, Congenital
A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
Erythroblasts
Anemia, Macrocytic
Erythrocytes, Abnormal
Erythropoiesis
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.
Iron Overload
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
Anion Exchange Protein 1, Erythrocyte
A major integral transmembrane protein of the ERYTHROCYTE MEMBRANE. It is the anion exchanger responsible for electroneutral transporting in CHLORIDE IONS in exchange of BICARBONATE IONS allowing CO2 uptake and transport from tissues to lungs by the red blood cells. Genetic mutations that result in a loss of the protein function have been associated with type 4 HEREDITARY SPHEROCYTOSIS.
Vesicular Transport Proteins
A broad category of proteins involved in the formation, transport and dissolution of TRANSPORT VESICLES. They play a role in the intracellular transport of molecules contained within membrane vesicles. Vesicular transport proteins are distinguished from MEMBRANE TRANSPORT PROTEINS, which move molecules across membranes, by the mode in which the molecules are transported.
Pedigree
Erythrocyte Membrane
Anemia, Aplastic
Anemia, Hemolytic
Bone Marrow
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.
Erythroblastic synartesis: an auto-immune dyserythropoiesis. (1/81)
Erythroblastic synartesis is a rare form of acquired dyserythropoiesis, first described by Breton-Gorius et al in 1973. This syndrome is characterized by the presence of septate-like membrane junctions and "glove finger" invaginations between erythroblasts, which are very tightly linked together. This phenomenon, responsible for ineffective erythropoiesis, leads to an isolated severe anemia with reticulocytopenia. In the following report, we describe 3 new cases of erythroblastic synartesis associated with dysimmunity and monoclonal gammapathy. In all cases, the diagnosis was suggested by characteristic morphological appearance of bone marrow smears, and further confirmed by electron microscopy. Ultrastructural examination of abnormal erythroblast clusters showed that these cells were closely approximated with characteristic intercellular membrane junctions. The pathogenesis of the dyserythropoiesis was modeled in vitro using crossed erythroblast cultures and immunoelectron microscopy: when cultured in the presence of autologous serum, the erythroblasts from the patients displayed synartesis, whereas these disappeared when cultured in normal serum. Moreover, synartesis of normal erythroblasts were induced by the patient IgG fraction. Immunogold labeling showed that the monoclonal IgG were detected in, and restricted to, the synartesis. A discrete monoclonal plasmacytosis was also found in the patient bone marrow. The adhesion receptor CD36 appeared to be concentrated in the junctions, suggesting that it might be involved in the synartesis. These experiments indicated that a monoclonal serum immunoglobulin (IgG in the present cases) directed at erythroblast membrane antigen was responsible for the erythroblast abnormalities. Specific therapy of the underlying lymphoproliferation was followed by complete remission of the anemia in these cases. (+info)Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? (2/81)
BACKGROUND AND OBJECTIVE: Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive condition, whose manifestations range from mild to moderate. Its exact prevalence is unknown. Based on a recently established International Registry of CDA-II (64 unrelated kindreds), a high frequency of CDA II families living in South Italy became evident. DESIGN AND METHODS: The aim of this study was to define the haplotypes of the CDA II kindreds living in Southern Italy based on markers D20S884, D20S863, RPN, D20S841 and D20S908. These markers map to 20q11.2, within the interval of the CDAN2 gene that is responsible for CDA II. Next, we looked at these markers in kindreds from other regions of Italy and from other countries, with special attention to families having ancestors in Southern Italy. RESULTS: Evaluation of the geographic distribution of the ancestry of Italian CDA-II patients clearly demonstrated the unusually high incidence of this condition in Southern Italy. Our statistical calculations and linkage disequilibrium data also clearly demonstrate a strong association of the markers of chromosome 20 with the disease locus in our sample. Almost all the regions defined by the markers here used is in disequilibrium with the disease. Combining the data from the Italian sample together with those obtained from the non-Italian ones, we can restrict the area of highest disequilibrium to that defined by markers D20S863-D20S908. INTERPRETATION AND CONCLUSIONS: Despite the presence of this linkage disequilibrium the search for a common haplotype failed. This could suggest that the mutation was very old or that it occurred more than once on different genetic backgrounds. (+info)Congenital dyserythropoietic anemia type III. (3/81)
BACKGROUND AND OBJECTIVES: Congenital dyserythropoietic anemia type III (CDA-III) is a group of very rare disorders characterized by similar bone marrow morphology. The clinical picture is characterized by hemolytic anemia and dramatic bone marrow changes dominated by active erythropoiesis with big multinucleated erythroblasts. The aim of this review is to describe the clinical manifestations, laboratory findings, and management CDA-III. EVIDENCE AND INFORMATION SOURCES: The present review critically examines relevant articles and abstracts published in journals covered by the Science Citation Index and Medline. The authors have performed several studies on CDA-III. STATE OF ART AND PERSPECTIVES: The clinical and laboratory manifestations of CDA-III indicate that the gene responsible for it, which has been mapped to chromosome 15q22, is expressed not only in erythroblasts during mitosis but also in B-cells, and in cells of the retina. Preliminary results indicate genetic and phenotypic similarities between a Swedish and an American family, both with an autosomally dominant inherited form of CDA-III. It is possible that the genetic lesion is identical in these families, but the different phenotypes and modes of inheritance reported among some other cases of CDA-III are probably the results of other genetic lesions. At present, the function of the gene responsible for the Swedish (V sterbotten) variant of CDA-III (CDAN3) is unknown and it is an important goal to characterize and clone this gene in order to study its function. (+info)Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. (4/81)
Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the iron overload. This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia. (+info)Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). (5/81)
Type II congenital dyserythropoietic anaemia (CDA-II or HEMPAS) is an autosomal recessive disorder, representing the most frequent form of congenital dyserythropoiesis. It is characterised by normocytic anaemia, variable jaundice and hepato-splenomegaly. Gallbladder disease and secondary haemochromatosis are frequent complications. We report a case characterised by severe transfusion-dependent anaemia. The proband inherited CDA-II in association with beta-thalassaemia trait. Splenectomy did not abolish the transfusion dependence and this, in association with poor compliance to iron-chelation therapy, prompted us to consider bone marrow transplantation (BMT) from his HLA-identical sibling. The preparative regimen included busulfan, thiotepa and fludarabine, and graft-versus-host disease prophylaxis consisted of cyclosporin A and short-term methotrexate. Engraftment of donor cells was prompt and the post-transplant course uncomplicated. The patient is alive and transfusion-independent 36 months after allograft. This is the first case of severe CDA-II to undergo BMT. Analysis of this pedigree suggests that interaction with beta-thalassaemia enhanced the clinical severity of CDA-II, making BMT an attractive therapy for patients with transfusion dependence. (+info)Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated. (6/81)
Glycophorins A from erythrocyte membranes of two patients with congenital dyserythropoietic anemia type I and type II (CDA type I and II) were analyzed for carbohydrate molar composition employing a modification of the recently published method that allowed simultaneous determination of carbohydrates and protein in electrophoretic bands of glycoproteins separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (Zdebska & Koscielak, 1999, Anal Biochem., 275, 171-179). The modification involved a preliminary extraction of erythrocyte membranes with aqueous phenol, subsequent electrophoresis and analysis of the extracted glycophorins rather than electrophoresis and analysis of the glycophorin from intact erythrocyte membranes. The results showed a large deficit of N-acetylgalactosamine, galactose, and sialic acid residues in glycophorin A from patients with CDA type I and type II amounting to about 45% and 55%, respectively. The results strongly suggest that glycophorin A in these patients is partly unglycosylated with respect to O-linked glycans. In addition, glycophorin A from erythrocytes of a patient with CDA II but not CDA I exhibited a significant deficit of mannose and N-acetylglucosamine suggesting that its N-glycosylation site was also partly unglycosylated. (+info)Natural history of congenital dyserythropoietic anemia type II. (7/81)
Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive disease characterized by anemia, jaundice, splenomegaly, and erythroblast multinuclearity. The natural history of the disease is unknown. The frequency, the relevance of complications, and the use of splenectomy are poorly defined. This study examined 98 patients from unrelated families enrolled in the International Registry of CDA-II. Retrospective data were obtained using an appropriate questionnaire. The mean age at presentation was 5.2 +/- 6.1 years. Anemia was present in 66% and jaundice in 53.4% of cases. The mean age at correct diagnosis was 15.9 +/- 11.8 years. Twenty-three percent of patients for whom data were available developed anemia during the neonatal period, and 10 of these individuals required transfusions. Splenectomy produced an increased hemoglobin (P <.001) and a reduced bilirubin level (P =.007) in comparison with values before splenectomy. Preliminary data indicate that iron overload occurs irrespective of the hemochromatosis genotype. (Blood. 2001;98:1258-1260) (+info)Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. (8/81)
GATA1 is the X-linked transcriptional activator required for megakaryocyte and erythrocyte differentiation. Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia. The three first GATA1 mutants display a disturbed binding to their essential transcription cofactor FOG1, whereas the fourth mutant shows an abnormal direct DNA binding. In this study, we describe a new family with deep macrothrombocytopenia, marked anemia and early mortality, if untreated, due to a different GATA1 mutation (D218Y) in the same residue 218 also implicated in the above mentioned milder phenotype. Zinc finger interaction studies revealed a stronger loss of affinity of D218Y-GATA1 than of D218G-GATA1 for FOG1 and a disturbed GATA1 self-association. Comparison of the phenotypic characteristics of patients from both families revealed that platelet and erythrocyte morphology as well as expression levels of the platelet GATA1-target gene products were more profoundly disturbed for the hemizygote D218Y mutation. The D218Y allele (as opposed to the D218G allele) was not expressed in the platelets of a female carrier while her leukocytes showed a skewed X-inactivation pattern. We conclude that the nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation. (+info) Dyserythropoietic anemia, congenital is a rare genetic disorder that affects the production of red blood cells (RBCs). It is characterized by an abnormality in the maturation of RBC precursors in the bone marrow, leading to underproduction and defective RBCs. The condition is usually diagnosed at birth or during childhood and can be severe, leading to symptoms such as fatigue, weakness, and shortness of breath. Treatment options are limited and may include blood transfusions, folic acid supplements, and medications to stimulate the production of RBCs. The prognosis for this condition is generally poor, with many individuals experiencing recurrent infections and a shorter than average life expectancy.
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Anemia, Hemolytic, Congenital: A type of anemia that is present at birth and caused by inherited genetic mutations that affect the production of hemoglobin or the structure of red blood cells, leading to their premature destruction (hemolysis).
Prevalence: Anemia, hemolytic, congenital is a rare disorder, affecting approximately 1 in 100,000 to 1 in 200,000 births.
Causes: The condition is caused by mutations in genes that code for proteins involved in hemoglobin synthesis or red blood cell membrane structure. These mutations can lead to abnormal hemoglobin formation, red blood cell membrane instability, and increased susceptibility to oxidative stress, which can result in hemolytic anemia.
Symptoms: Symptoms of anemia, hemolytic, congenital may include jaundice (yellowing of the skin and eyes), fatigue, weakness, pale skin, and shortness of breath. In severe cases, the condition can lead to life-threatening complications such as anemia, infections, and kidney failure.
Diagnosis: Anemia, hemolytic, congenital is typically diagnosed through a combination of physical examination, medical history, and laboratory tests, including blood smear examination, hemoglobin electrophoresis, and mutation analysis.
Treatment: Treatment for anemia, hemolytic, congenital depends on the specific underlying genetic cause and may include blood transfusions, folic acid supplements, antibiotics, and/or surgery to remove the spleen. In some cases, bone marrow transplantation may be necessary.
Prognosis: The prognosis for anemia, hemolytic, congenital varies depending on the specific underlying genetic cause and the severity of the condition. With appropriate treatment, many individuals with this condition can lead relatively normal lives, but in severe cases, the condition can be life-threatening.
Anemia is a medical condition where there are not enough red blood cells or hemoglobin in the body. Hemoglobin is a protein in red blood cells that carries oxygen to different parts of the body. Without enough red blood cells or hemoglobin, the body may not get enough oxygen, which can cause a range of symptoms and health problems.
There are many different types of anemia, each with its own set of causes and symptoms. Some common types of anemia include:
1. Iron-deficiency anemia: This is the most common type of anemia and is caused by a lack of iron in the diet or a problem with the body's ability to absorb iron. Iron is essential for making hemoglobin.
2. Vitamin deficiency anemia: This type of anemia is caused by a lack of vitamins, such as vitamin B12 or folate, that are necessary for red blood cell production.
3. Anemia of chronic disease: This type of anemia is seen in people with chronic diseases, such as kidney disease, rheumatoid arthritis, and cancer.
4. Sickle cell anemia: This is a genetic disorder that affects the structure of hemoglobin and causes red blood cells to be shaped like crescents or sickles.
5. Thalassemia: This is a genetic disorder that affects the production of hemoglobin and can cause anemia, fatigue, and other health problems.
The symptoms of anemia can vary depending on the type and severity of the condition. Common symptoms include fatigue, weakness, pale skin, shortness of breath, and dizziness or lightheadedness. Anemia can be diagnosed with a blood test that measures the number and size of red blood cells, as well as the levels of hemoglobin and other nutrients.
Treatment for anemia depends on the underlying cause of the condition. In some cases, dietary changes or supplements may be sufficient to treat anemia. For example, people with iron-deficiency anemia may need to increase their intake of iron-rich foods or take iron supplements. In other cases, medical treatment may be necessary to address underlying conditions such as kidney disease or cancer.
Preventing anemia is important for maintaining good health and preventing complications. To prevent anemia, it is important to eat a balanced diet that includes plenty of iron-rich foods, vitamin C-rich foods, and other essential nutrients. It is also important to avoid certain substances that can interfere with the absorption of nutrients, such as alcohol and caffeine. Additionally, it is important to manage any underlying medical conditions and seek medical attention if symptoms of anemia persist or worsen over time.
In conclusion, anemia is a common blood disorder that can have significant health implications if left untreated. It is important to be aware of the different types of anemia, their causes, and symptoms in order to seek medical attention if necessary. With proper diagnosis and treatment, many cases of anemia can be successfully managed and prevented.
Macrocytic anemia is a type of anemia characterized by large red blood cells that are more susceptible to hemolysis (breakdown) than normal red blood cells. This condition can be caused by several factors such as vitamin deficiencies, alcoholism, liver disease, and certain medications.
Symptoms of macrocytic anemia may include fatigue, weakness, pale skin, and shortness of breath. Diagnosis is typically made through a complete blood count (CBC) test that shows an elevated mean corpuscular volume (MCV) and reticulocyte count. Treatment depends on the underlying cause, but may include vitamin supplements, changes in medication, or addressing any underlying medical conditions.
In summary, macrocytic anemia is a type of anemia characterized by large red blood cells that are prone to breakdown and can be caused by various factors. It can cause symptoms such as fatigue, weakness, and shortness of breath, and diagnosis is made through a CBC test. Treatment depends on the underlying cause.
Iron overload is a condition that occurs when there is too much iron in the body. This can happen for several reasons, including inherited disorders such as hemochromatosis, regular blood transfusions, or consuming excessive amounts of iron-rich foods or supplements. When there is too much iron in the body, it can accumulate in organs such as the liver, heart, and pancreas, leading to damage and potentially life-threatening complications.
Symptoms of iron overload can include fatigue, weakness, joint pain, and abdominal discomfort. Treatment for iron overload usually involves reducing iron intake and undergoing regular phlebotomy (blood removal) to remove excess iron from the body. In severe cases, iron chelation therapy may be recommended to help remove excess iron from tissues and organs.
In addition to these medical definitions and treatments, there are also some key points to keep in mind when it comes to iron overload:
1. Iron is essential for human health, but too much of it can be harmful. The body needs a certain amount of iron to produce hemoglobin, the protein in red blood cells that carries oxygen throughout the body. However, excessive iron levels can damage organs and tissues.
2. Hereditary hemochromatosis is the most common cause of iron overload. This genetic disorder causes the body to absorb too much iron from food, leading to its accumulation in organs and tissues.
3. Iron overload can increase the risk of certain diseases, such as liver cirrhosis, diabetes, and heart disease. It can also lead to a condition called hemosiderosis, which is characterized by the deposition of iron in tissues and organs.
4. Phlebotomy is a safe and effective treatment for iron overload. Regular blood removal can help reduce excess iron levels and prevent complications such as liver damage, heart failure, and anemia.
5. Iron chelation therapy may be recommended in severe cases of iron overload. This involves using drugs to remove excess iron from tissues and organs, but it is not always necessary and can have potential side effects.
Aplastic anemia is a rare and serious blood disorder where the bone marrow fails to produce enough new blood cells. The condition can be caused by genetic mutations, exposure to certain chemicals or radiation, infections, autoimmune diseases, or other underlying medical conditions.
Symptoms of aplastic anemia may include fatigue, weakness, shortness of breath, pale skin, and increased risk of bleeding or infection. Treatment options for aplastic anemia typically involve blood transfusions and immunosuppressive drugs to stimulate the bone marrow to produce new blood cells. In severe cases, a bone marrow transplant may be necessary.
Overall, aplastic anemia is a rare and serious condition that requires careful management by a healthcare provider to prevent complications and improve quality of life.
Hemolytic anemia is a condition where the body produces immature or abnormal red blood cells that are prone to rupture, leading to anemia and jaundice (yellowing of the skin and eyes). This can be caused by genetic disorders, autoimmune diseases, infections, or certain medications.
Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, dizziness, headaches, and pale or yellowish skin. Treatment options depend on the underlying cause but may include blood transfusions, medication to suppress the immune system, antibiotics for infections, and removal of the spleen (splenectomy) in severe cases.
Prevention strategies for hemolytic anemia include avoiding triggers such as certain medications or infections, maintaining good hygiene practices, and seeking early medical attention if symptoms persist or worsen over time.
It is important to note that while hemolytic anemia can be managed with proper treatment, it may not be curable in all cases, and ongoing monitoring and care are necessary to prevent complications and improve quality of life.
Congenital dyserythropoietic anemia
... type IV". www.orpha.net. Retrieved 2016-01-29. "Congenital dyserythropoietic anemia, type I ... is the most frequent type of congenital dyserythropoietic anemias. The diagnosis of congenital dyserythropoietic anemia can be ... Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of ... "Congenital dyserythropoietic anemia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2 January 2018. Greer, John P ...
Congenital dyserythropoietic anemia type IV
"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV; CDAN4". Omim.org. Retrieved 6 May 2015. Congenital dyserythropoietic anemia at ... Congenital dyserythropoietic anemia Thalassemia Hemoglobinopathy List of hematologic conditions "Congenital dyserythropoietic ... Congenital dyserythropoietic anemia type IV (CDA IV) has been described with typical morphologic features of CDA II but a ... Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ...
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference (Articles with short ... 2003). "Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term ... Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with positive acidified ... McCann, Shaun R; Firth, R; Murray, Nuala; Temperley, I J (1980). "Congenital dyserythropoietic anaemia type II (HEMPAS): A ...
Congenital dyserythropoietic anemia type I
Home Reference GeneReviews/NCBI/NIH/UW entry on Congenital Dyserythropoietic Anemia Type I Congenital dyserythropoietic anemia ... Congenital dyserythropoietic anemia Thalassemia Hemoglobinopathy List of hematologic conditions Congenital dyserythropoietic ... anaemia type I - Enerca (European Network for Rare and Congenital Anaemias) website congenital dyserythropoietic anemia - ... Congenital dyserythropoietic anemia type I (CDA I) is a disorder of blood cell production, particularly of the production of ...
Congenital dyserythropoietic anemia type III
... to chromosome 15q21-q25 congenital dyserythropoietic anemia - Genetic Home References Congenital dyserythropoietic anemia at ... Congenital dyserythropoietic anemia type III (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia ... Potential cures include bone marrow transplantation and gene therapy.[citation needed] Congenital dyserythropoietic anemia ... Thalassemia Hemoglobinopathy List of hematologic conditions Localization of the gene for congenital dyserythropoietic anemia ...
Hemolytic jaundice
... autoimmune hemolytic anemia, hemolysis secondary to drug toxicity, thalassemia minor, and congenital dyserythropoietic anemias ... "Congenital dyserythropoietic anemia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-04-14. Orf K, Cunnington ... Kamiya T, Manabe A (October 2010). "Congenital dyserythropoietic anemia". International Journal of Hematology. 92 (3): 432-8. ... Hemolysis secondary to drug toxicity Thalassemia minor Congenital dyserythropoietic anemia The above list is not exhaustive, ...
List of OMIM disorder codes
AR Anemia, congenital dyserythropoietic, type I; 224120; CDAN1 Anemia, dyserythropoietic congenital, type II; 224100; SEC23B ... 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 ... KCNJ11 Diamond-Blackfan anemia 1; 105650; RPS19 Diamond-Blackfan anemia 10; 613309; RPS26 Diamond-Blackfan anemia 4; 612527; ...
Dyserythropoiesis
Congenital/inherited causes include congenital dyserythropoietic anemia, thalassemia, pyruvate kinase deficiency, hereditary ... Erythropoiesis Erythrocyte Congenital dyserythropoietic anemia Orkin, S.H.; Nathan, D.G. (2009). Nathan and Oski's Hematology ... This problem can be congenital, acquired, or inherited. Some red blood cells may be destroyed within the bone marrow during the ... These abnormalities can be functional and/or morphological, which can lead to anemia since there may be increased turnover of ...
Anisopoikilocytosis
"Congenital dyserythropoietic anaemia type II: a rare entity". BMJ Case Reports. 2011: bcr0120113684. doi:10.1136/bcr.01.2011. ... The underlying cause can be attributed to various anemias, most often; beta thalassemia major, a form of microcytic anemia. In ...
TTBK2
"Congenital Dyserythropoietic Anemia Type I is Caused by Mutations in Codanin-1". The American Journal of Human Genetics. 71 (6 ...
Ham test
... indicates PNH or congenital dyserythropoietic anemia. This is now an obsolete test for diagnosing PNH due to its low ... Ham's test is occasionally positive in aplastic anemia. Ham, Thomas H. (1937). "Chronic Hemolytic Anemia with Paroxysmal ...
Paroxysmal nocturnal hemoglobinuria
... indicates PNH or Congenital dyserythropoietic anemia. This is now an obsolete test for diagnosing PNH due to its low ... In this case, anemia may be caused by insufficient red blood cell production in addition to the hemolysis. Historically, the ... It may develop on its own ("primary PNH") or in the context of other bone marrow disorders such as aplastic anemia ("secondary ... If the PNH occurs in the setting of known (or suspected) aplastic anemia, abnormal white blood cell counts and decreased ...
ZFP106
2003). "Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1". Am. J. Hum. Genet. 71 (6): 1467-74. ...
UBR1
2003). "Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1". Am. J. Hum. Genet. 71 (6): 1467-74. ...
CCNDBP1
2003). "Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1". Am. J. Hum. Genet. 71 (6): 1467-74. ...
Hemolytic anemia
... sickle-cell disease and congenital dyserythropoietic anemia). Defective red cell metabolism (as in glucose-6-phosphate ... Hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), ... Symptoms of hemolytic anemia include those that can occur in all anemias as well as the specific consequences of hemolysis. All ... Symptoms of hemolytic anemia are similar to other forms of anemia (fatigue and shortness of breath), but in addition, the ...
Coatomer
Symptoms for Congenital Dyserythropoietic Anemia type II include anemia, jaundice, low reticulocyte count, splenomegaly, and ... Problems with COP II early secretory pathways can lead to a disease called Congenital Dyserythropoietic Anemia type II. This is ... Congenital Dyserythropoeitic Anemia Type II is normally diagnosed during adolescence or early adulthood. Congenital ... "Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation". ...
KLF1
"A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia ... however semi-dominant mutations have been identified in humans and mice as the cause of a rare inherited anemia CDA type IV. ...
Chronic recurrent multifocal osteomyelitis
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis, uncommon childhood diseases of unknown ... The association of Sweet syndrome with chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia in ... congenital dyserythropoietic anemia, and neutrophilic dermatosis. To date, two unrelated families with Majeed syndrome have ... "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the ...
GATA1
Structural features of these cells were similar to those observed in congenital dyserythropoietic anemia. -183G>A: rare Single- ... mutations in the N-ZnF motif of GATA1 and GATA1-S are associated with diseases similar to congenital dyserythropoietic anemia, ... anemia with structural features in bone marrow red cell precursors similar to those observed in congenital dyserythropoietic ... regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II". ...
Majeed syndrome
... congenital dyserythropoietic anemia and a neutrophilic dermatosis. It is classified as an autoinflammatory bone disorder. The ... Red blood transfusions could also be done for patients with severe congenital dyserythrypoietic anemia (CDA). TNF receptor ...
CDAN1
Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional ...
List of hematologic conditions
"Congenital dyserythropoietic anemia". Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health ... 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 at Mount Sinai Hospital [1] at Mount Sinai Hospital "Hemolytic ...
Ineffective erythropoiesis
Congenital dyserythropoietic anemias List of hematologic conditions Nelson Textbook of Pediatrics, 18th ed v t e (Medical ... anemia. It is a condition characterised by the presence or abundance of dysfunctional progenitor cells. ... terminology, Anemias, All stub articles, Disease stubs, Cardiovascular system stubs). ...
COPII
... while Sec23B variants are associated with the bone marrow disease congenital dyserythropoietic anemia type II and some cancers ...
Congenital hemolytic anemia
A deficiency Hemoglobinopathies/genetic conditions of hemoglobin Sickle cell anemia Congenital dyserythropoietic anemia ... Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders. Basically classified by ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Archived 2016-09-19 at the Wayback Machine Retrieved ...
List of diseases (C)
Congenital deafness Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia ... bowel Congenital short femur Congenital skeletal disorder Congenital skin disorder Congenital spherocytic anemia Congenital ... Congenital hemolytic anemia Congenital hepatic fibrosis Congenital hepatic porphyria Congenital herpes simplex Congenital ... Congenital s Congenital megacolon Congenital megaloureter Congenital mesoblastic nephroma Congenital microvillous atrophy ...
Hemolysis
... sickle-cell disease and congenital dyserythropoietic anemia) Defective red cell metabolism (as in glucose-6-phosphate ... Low-grade hemolytic anemia occurs in 70% of prosthetic heart valve recipients, and severe hemolytic anemia occurs in 3%. ... autoimmune haemolytic anaemia, drug-induced hemolytic anemia, atypical hemolytic uremic syndrome (aHUS)), some genetic ... Lead poisoning or poisoning by arsine or stibine causes non-immune hemolytic anemia. Runners can develop hemolytic anemia due ...
CDA
... a healthcare documentation standard Congenital dyserythropoietic anemia, a blood condition Cytidine deaminase, an enzyme ...
Megaloblastic anemia
Inborn genetic mutations of the Methionine synthase gene Di Guglielmo's syndrome Congenital dyserythropoietic anemia Copper ... Megaloblastic anemia is a type of macrocytic anemia. An anemia is a red blood cell defect that can lead to an undersupply of ... Megaloblastic anemia is a blood disorder in which there is anemia with larger-than-normal red blood cells. Anemia is a ... Megaloblastic anemia has a rather slow onset, especially when compared to that of other anemias. The defect in red cell DNA ...
List of MeSH codes (C16)
... anemia, dyserythropoietic, congenital MeSH C16.320.070.100 - anemia, hemolytic, congenital nonspherocytic MeSH C16.320.070.150 ... anemia, Diamond-Blackfan MeSH C16.320.077.280 - fanconi anemia MeSH C16.320.099.037 - activated protein C resistance MeSH ... congenital MeSH C16.131.621.551 - Klippel-Feil syndrome MeSH C16.131.621.585 - limb deformities, congenital MeSH C16.131. ... congenital MeSH C16.131.621.585.512 - lower extremity deformities, congenital MeSH C16.131.621.585.600 - polydactyly MeSH ...
Anemia
... causing deficient globin synthesis Congenital dyserythropoietic anemias, causing ineffective erythropoiesis Anemia of kidney ... Look up anemia in Wiktionary, the free dictionary. Anemia, U.S. National Library of Medicine [About Anemia] (CS1: long volume ... Fanconi anemia is a hereditary disorder or defect featuring aplastic anemia and various other abnormalities. Anemia of kidney ... Anemia of folate deficiency, as with vitamin B12, causes megaloblastic anemia Anemia of prematurity, by diminished ...
List of diseases (D)
... congenital Dyserythropoietic anemia, congenital type 1 Dyserythropoietic anemia, congenital type 2 Dyserythropoietic anemia, ... Dyschromatosis universalis Dysencephalia splachnocystica or Meckel-Gruber Dysequilibrium syndrome Dyserythropoietic anemia, ... congenital Diarrhea chronic with villous atrophy Diarrhea polyendocrinopathy infections X linked Diastematomyelia Diastrophic ... congenital type 3 Dysexecutive syndrome Dysferlinopathy Dysfibrinogenemia, familial Dysfibrinogenemia, acquired Dysgerminoma ...
List of MeSH codes (C15)
... anemia, hemolytic, congenital MeSH C15.378.071.141.150.095 - anemia, dyserythropoietic, congenital MeSH C15.378.071.141.150.100 ... anemia, aplastic MeSH C15.378.190.196.080 - anemia, hypoplastic, congenital MeSH C15.378.190.196.080.090 - anemia, diamond- ... MeSH C15.378.071.085 - anemia, aplastic MeSH C15.378.071.085.080 - anemia, hypoplastic, congenital MeSH C15.378.071.085.080.090 ... anemia, hemolytic, congenital nonspherocytic MeSH C15.378.071.141.150.150 - anemia, sickle cell MeSH C15.378.071.141.150.150. ...
Congenital dyserythropoietic anemia - About the Disease - Genetic and Rare Diseases Information Center
Find symptoms and other information about Congenital dyserythropoietic anemia. ... When Do Symptoms of Congenital dyserythropoietic anemia Begin?. Symptoms of this disease may start to appear as a Child.. The ... Congenital dyserythropoietic anemia is a hereditary disease that affects the production of red blood cells (erythropoiesis) and ... About Congenital dyserythropoietic anemia. Many rare diseases have limited information. Currently GARD aims to provide the ...
Congenital dyserythropoietic anemia - NIH Genetic Testing Registry (GTR) - NCBI
Clinical resource with information about Congenital dyserythropoietic anemia and its clinical features, available genetic tests ... Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This ... CROGThrombocytopenia, X-linked, with or without dyserythropoietic anemia ... CROGCongenital dyserythropoietic anemia, type III. * ... CROGCongenital dyserythropoietic anemia, type I. ***CROGAnemia ...
Congenital dyserythropoietic anemia: MedlinePlus Genetics
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. ... medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia/ Congenital dyserythropoietic anemia. ... The congenital dyserythropoietic anemias. Hematol Oncol Clin North Am. 2009 Apr;23(2):283-306. doi: 10.1016/j.hoc.2009.01.010. ... Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This ...
Congenital dyserythropoietic anemias - PubMed
... are a heterogeneous group of inherited anemias that affect the normal differentiation-proliferation pathways of the erythroid ... Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America ... Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal ... Congenital dyserythropoietic anemias Achille Iolascon 1 2 , Immacolata Andolfo 1 2 , Roberta Russo 1 2 ...
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and...
This is the second report of the syndrome of chronic recurrent multifocal osteomyelitis and microcytic congenital ... dyserythropoietic anaemia, confirming it as a clinical entity, inherited as an autosomal recessive trait. The disease is ... The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and ... and congenital dyserythropoietic anaemia (CDA) with microcytosis has recently been described in four children (two sibships) of ...
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital...
LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia ( ... LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia ( ... LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia ( ...
Congenital dyserythropoietic anemia type 1 | Rare Diseases | RareGuru
Information on Congenital dyserythropoietic anemia type 1, which may include symptoms, causes, inheritance, treatments, orphan ... congenital type 1, CDA I, Dyserythropoietic anemia, congenital type 1, Type I congenital dyserythropoietic anemia See more ... Congenital dyserythropoietic anemia type 1 and get the support you need. Description. Congenital dyserythropoietic anemia (CDA ... What are the signs and symptoms of congenital dyserythropoietic anemia type 1? Signs and symptoms of congenital ...
Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level. | Br J...
Mutational analysis of the CDAN1 gene in familial and sporadic congenital dyserythropoietic anaemia type 1 - MRC Weatherall...
Anemia Workup: Approach Considerations, Investigation for Pathogenesis, Evaluation for Blood Loss
Anemia is strictly defined as a decrease in red blood cell (RBC) mass. The function of the RBC is to deliver oxygen from the ... Congenital dyserythropoietic anemias - Demonstration of abnormalities of erythroid precursors in bone marrow aspirates, ... and they are also less useful in diagnosing congenital dyserythropoietic anemia, in which they reveal the multinuclearity of ... Although the abnormality is inherited, congenital manifestations may be unusual. An infant with sickle cell anemia or beta ...
Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level. -...
Biomarkers Search
7. Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North ... 1. Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.. Hamada M; Doisaki ... 2. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital ... Congenital dyserythropoietic anemia in China: a case report from two families and a review.. Ru Y; Liu G; Bai J; Dong S; Nie N ...
Hemolytic anemia: Symptoms, diagnosis, and treatment
Hemolytic anemia is a condition that occurs when the body destroys red blood cells faster than it replaces them, causing ... Defective production of red blood cells: For example, it can lead to congenital dyserythropoietic anemia type 2, a condition ... Hemolytic anemia. (2022). https://www.nhlbi.nih.gov/health/anemia/hemolytic-anemia#What-causes-hemolytic-anemia. ... Is sickle cell anemia fatal?. Medically reviewed by Jenneh Rishe, RN. Sickle cell anemia can lead to fatal complications, but ...
MeSH Browser
Congenital Dyserythropoietic Anemia, Type I Congenital Dyserythropoietic Anemia, Type III Dyserythropoietic Anemia, Congenital ... Anemia, Dyserythropoietic, Congenital, Type III Congenital Dyserythropoietic Anemia Congenital Dyserythropoietic Anemia Type 1 ... Anemia, Congenital Dyserythropoietic Anemia, Congenital Dyserythropoietic, Type II Anemia, Dyserythropoietic Congenital, Type I ... Dyserythropoietic Anemia, Congenital Type 2 Dyserythropoietic Anemia, Congenital, Type I Dyserythropoietic Anemia, Congenital, ...
SEC23B
- Early...
The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal...
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene ... Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II ... mutations in SEC23B lead to congenital dyserythropoietic anemia type II (CDAII), a disease characterized by ineffective ... For example, mutations in SEC23B result in the human disease CDAII, which manifests in anemia but not skeletal defects, whereas ...
Hemochromatosis: Practice Essentials, Background, Pathophysiology
Managing the Unusual Causes of Fetal Anemia - PubMed
Fetal and neonatal anemias can be recurrent in further pregnancies, with variable expressivity. ... Fetal anemia of rare or unknown diagnosis represents 5% of all transfused fetuses in our cohort. ... congenital syphilis, neonatal poikilocytosis, type II congenital dyserythropoietic anemia (CDA), and neonatal hemochromatosis. ... Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. Ogura H ...
Nuclear Architecture and Regulation of Hematopoiesis - NIDDK
MedlinePlus: Genetic Conditions
Anemia, dyserythropoietic, congenital, see Congenital dyserythropoietic anemia. *Anemia, hereditary sideroblastic, see X-linked ... Anemia, hypochromic microcytic, with defect in iron metabolism, see Iron-refractory iron deficiency anemia ... Autosomal recessive complete congenital stationary night blindness, see Autosomal recessive congenital stationary night ... Autosomal recessive incomplete congenital stationary night blindness, see Autosomal recessive congenital stationary night ...
DeCS
Congenital Dyserythropoietic Anemias Dyserythropoietic Anemia, Congenital Dyserythropoietic Anemias, Congenital Anemia, ... Anemia, Dyserythropoietic, Congenital Entry term(s). Anemia, Congenital Dyserythropoietic Anemias, Congenital Dyserythropoietic ... Anemia, Dyserythropoietic Congenital, Type II Anemia, Dyserythropoietic, Congenital Type 2 Congenital Dyserythropoietic Anemia ... Anemia, Dyserythropoietic Congenital, Type I Anemia, Dyserythropoietic, Congenital Type 1 Congenital Dyserythropoietic Anemia ...
MeSH Browser
Congenital Dyserythropoietic Anemia, Type I Congenital Dyserythropoietic Anemia, Type III Dyserythropoietic Anemia, Congenital ... Anemia, Dyserythropoietic, Congenital, Type III Congenital Dyserythropoietic Anemia Congenital Dyserythropoietic Anemia Type 1 ... Anemia, Congenital Dyserythropoietic Anemia, Congenital Dyserythropoietic, Type II Anemia, Dyserythropoietic Congenital, Type I ... Dyserythropoietic Anemia, Congenital Type 2 Dyserythropoietic Anemia, Congenital, Type I Dyserythropoietic Anemia, Congenital, ...
Lexical Tools
NCIt Code NCIt PT Subset PT Subset SY NCIt Definition Subset Definition NCIt Code of First Parent First Parent NCIt Code of...
It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and ... It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and ... A congenital or acquired spinal deformity characterized by lateral curvature of the spine. C107377 Musculoskeletal System ... May be primary (congenital) or secondary (acquired). C3507 Immune System Disorder C118468 Pediatric Rheumatology Terminology ...
British Journal of Haematology | Scholars@Duke
The abnormal surface characteristics of the red blood cell membrane in congenital dyserythropoietic anaemia type II (HEMPAS).. ... Long-term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond-Blackfan syndrome).. 84: ... Aplastic anaemia as an autoimmune complication of thymoma.. 137:272. 2007 * Genetic polymorphisms associated with priapism in ... Previous donor pregnancy as a risk factor for acute graft-versus-host disease in patients with aplastic anaemia treated by ...
SORANZO, MARIA ROSA
HuGE Navigator|Genopedia|PHGKB
Anemia hypoplastic congenital. Medical search
MegaloblasticAnemia, RefractoryAnemia, Hemolytic, CongenitalEquine Infectious AnemiaAnemia, Dyserythropoietic, CongenitalAnemia ... Congenital Hypoplastic Anemia Congenital Hypoplastic Anemias Hypoplastic Anemia, Congenital Hypoplastic Anemias, Congenital ... Anemia, Congenital Hypoplastic. Anemias, Congenital Hypoplastic. Congenital Hypoplastic Anemia. Congenital Hypoplastic Anemias ... AnemiaAnemia, AplasticAnemia, HemolyticFanconi AnemiaAnemia, Hemolytic, AutoimmuneAnemia, HypochromicAnemia, MacrocyticAnemia, ...
James Bieker - Publications & Research Outputs - Icahn School of Medicine at Mount Sinai
ErythropoiesisHemolytic AnemiasDiagnosisMicrocyticSEC23BHereditarySevereGeneHypoplasticSigns and symptomsMacrocytic anemiaSymptomsAutosomalErythroblastsMeSH2020GeneticDisorderAutoimmuneMultinuclearitySyndromeFanconiAplasticClinicalDiseaseMarrowRegistryShortage of red bloodPathwaysHypochromicRarePatient'sDeficiencyForm of anemiaHemoglobinTermPatientsDetectionRBCsCellsConditionsPeopleCase report
Erythropoiesis2
- Congenital dyserythropoietic anemia is a hereditary disease that affects the production of red blood cells (erythropoiesis) and is characterized by anemia and problems in various organs. (nih.gov)
- Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level. (bvsalud.org)
Hemolytic Anemias2
- 9. Rare Hereditary Hemolytic Anemias: Diagnostic Approach and Considerations in Management. (nih.gov)
- Inherited hemolytic anemias are a group of rare conditions that fall into several categories. (medicalnewstoday.com)
Diagnosis4
- The first step in the diagnosis of anemia is detection with reliable, accurate tests so that important clues to underlying disease are not overlooked and patients are not subjected to unnecessary tests for and treatment of nonexistent anemia. (medscape.com)
- 6. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. (nih.gov)
- 14. Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias. (nih.gov)
- Fetal echocardiography is used by means of decleration of fetal cardiac anaxtomy, to estabilish the diagnosis of congenital heart disease in utero. (e-cep.org)
Microcytic1
- This is the second report of the syndrome of chronic recurrent multifocal osteomyelitis and microcytic congenital dyserythropoietic anaemia, confirming it as a clinical entity, inherited as an autosomal recessive trait. (nih.gov)
SEC23B5
- 3. Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia. (nih.gov)
- 8. Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II. (nih.gov)
- 10. Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. (nih.gov)
- 11. Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings. (nih.gov)
- 16. Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population. (nih.gov)
Hereditary1
- A menudo se conoce como HEMPAS, debido al término inglés Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test (anemia Eritroblástica Multinuclear Hereditaria con prueba de hemólisis en Suero Acidificado Positiva). (bvsalud.org)
Severe7
- Type 4: Characterized by very severe anemia. (nih.gov)
- n\nCDA type I is characterized by moderate to severe anemia. (nih.gov)
- n\nThe anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. (nih.gov)
- Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe anemia . (rareguru.com)
- Graft-versus-host disease prevention by methotrexate combined with cyclosporin compared to methotrexate alone in patients given marrow grafts for severe aplastic anaemia: long-term follow-up of a controlled trial. (duke.edu)
- A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy. (lookformedical.com)
- Aberrant splicing contributes to severe a-spectrin-linked congenital hemolytic anemia. (umassmed.edu)
Gene3
- 2. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. (nih.gov)
- gene cause autosomal recessive congenital dyserythropoietic anemia type III. (haematologica.org)
- Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. (nih.gov)
Hypoplastic3
- Long-term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond-Blackfan syndrome). (duke.edu)
- Anemia hypoplastic congenital. (lookformedical.com)
- A rare congenital hypoplastic anemia that usually presents early in infancy. (lookformedical.com)
Signs and symptoms3
- The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including hepatosplenomegaly and an abnormal buildup of iron. (medlineplus.gov)
- What are the signs and symptoms of congenital dyserythropoietic anemia type 1? (rareguru.com)
- Signs and symptoms of congenital dyserythropoietic anemia type 1 (CDA1) commonly become apparent in the newborn period. (rareguru.com)
Macrocytic anemia2
- CONCLUSIONS: Macrocytic anemia is not the only hematological presentation of ABG. (symptoma.com)
- The overall subsample presented 24.7% low B-12, 8.1% low folate, 22.2% anemia and 3.7% macrocytosis, 1.3% macrocytic anemia. (symptoma.com)
Symptoms2
- When Do Symptoms of Congenital dyserythropoietic anemia Begin? (nih.gov)
- Diagnosing hemolytic anemia involves taking a person's medical history and performing physical exams, during which a doctor notes down their symptoms. (medicalnewstoday.com)
Autosomal1
- A new autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anaemia (CDA) with microcytosis has recently been described in four children (two sibships) of one consangineous Arab family. (nih.gov)
Erythroblasts2
- A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS , karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors ( ERYTHROID PRECURSOR CELLS ). (nih.gov)
- Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow. (lookformedical.com)
MeSH1
- Anemia, Hemolytic, Congenital" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
20201
- However, a 2020 study notes that acquired hemolytic anemia is rare, and the most common acquired cause is an autoimmune condition. (medicalnewstoday.com)
Genetic1
- 4. Clinical and genetic features of congenital dyserythropoietic anemia (CDA). (nih.gov)
Disorder5
- Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. (nih.gov)
- This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. (nih.gov)
- A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS. (lookformedical.com)
- Congenital moytonia is an inherited neuromuscular disorder characterized by the slow relaxation. (labogen.com)
- Congenital moytonia is an inherited neuromuscular disorder characterized by the slow relaxation of muscles after voluntary contraction or electrical stimulation. (labogen.com)
Autoimmune1
- Aplastic anaemia as an autoimmune complication of thymoma. (duke.edu)
Multinuclearity1
- Congenital dyserythropoietic anemia Type II (herditary erythroblatic multinuclearity with positive acidfied serum test;HEMPAS) is characterized by binuclearity, multinuclearity, pluripolar mitoses, karyorrhexis of normoblasts, and the presence of abnormla antigens on the red cells. (e-cep.org)
Syndrome3
- The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. (nih.gov)
- It causes chicken infectious anemia and may possibly play a key role in hemorrhagic anemia syndrome, anemia dermatitis, and blue wing disease. (lookformedical.com)
- IL-18 Binding Protein-Producing Cells Attenuate Anemia in Murine Macrophage Activation Syndrome. (genetargeting.com)
Fanconi2
- Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts. (duke.edu)
- Marrow transplantation for Fanconi anaemia: conditioning with reduced doses of cyclophosphamide without radiation. (duke.edu)
Aplastic2
Clinical2
- 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. (lookformedical.com)
- Alternatively, an obvious primary disease that is associated with folate deficiency anemia may dominate the clinical picture (for example, alcoholism, malabsorption, or malnutrition ). (symptoma.com)
Disease1
- A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. (lookformedical.com)
Marrow3
- Effect of myeloablative bone marrow transplantation on growth in children with sickle cell anaemia: results of the multicenter study of haematopoietic cell transplantation for sickle cell anaemia. (duke.edu)
- A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. (lookformedical.com)
- Because RBC membrane molding occurs in the spleen after cell release from the marrow, RBCs may be slightly macrocytic after splenectomy , although these changes are not associated with anemia. (symptoma.com)
Registry1
- 7. Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). (nih.gov)
Shortage of red blood1
- In hemolytic anemia, the shortage of red blood cells results in an inadequate supply of oxygen to tissues. (medicalnewstoday.com)
Pathways2
- Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal differentiation-proliferation pathways of the erythroid lineage. (nih.gov)
- The application of structural biology, mechanobiology, cell and developmental biology, and new high resolution cellular imaging tools to hematopoiesis may identify new developmental regulators and may uncover novel therapeutic pathways for inherited blood disorders, such as the Congenital Dyserythropoietic Anemias or acquired blood disorders of aging. (nih.gov)
Hypochromic1
- Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. (lookformedical.com)
Rare1
- Rare causes of fetal anemia requiring intrauterine transfusion (IUT) are challenging for fetal medicine specialists. (nih.gov)
Patient's2
- Often, the etiology of a patient's anemia can be determined if the red blood cells (RBCs) are altered in either size or shape or if they contain certain inclusion bodies. (medscape.com)
- Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS. (lookformedical.com)
Deficiency3
- A common type that can cause hemolytic anemia is a deficiency in the glucose-6-phosphate dehydrogenase enzyme. (medicalnewstoday.com)
- Congenital dyserythropoietic anaemia type II associated with a new type of G6PD deficiency (G6PD Gabrovizza). (units.it)
- Paresthesias can be the presenting manifestation of B12 deficiency, even before (or in the absence of) anemia. (symptoma.com)
Form of anemia1
- Type 2: Characterized by hepatosplenomegaly, gallbladder stones, and a milder form of anemia. (nih.gov)
Hemoglobin4
- The World Health Organization (WHO) criterion for anemia in adults is a hemoglobin (Hb) value of less than 12.5 g/dL. (medscape.com)
- A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES). (lookformedical.com)
- 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. (lookformedical.com)
- Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). (lookformedical.com)
Term3
- The term "dyserythropoietic" in the name of this condition means abnormal red blood cell formation. (medlineplus.gov)
- What is the long-term outlook for people with congenital dyserythropoietic anemia type 1? (rareguru.com)
- The long-term outlook (prognosis) for people with congenital dyserythropoietic anemia type 1 (CDA1) is usually good, even if life expectancy is slightly reduced in some cases. (rareguru.com)
Patients2
- Connect with other caregivers and patients with Congenital dyserythropoietic anemia type 1 and get the support you need. (rareguru.com)
- Anemia and cognitive performance in hospitalized older patients : Results from the GIFA study. (symptoma.com)
Detection1
- Detection of anemia involves the adoption of arbitrary criteria. (medscape.com)
RBCs1
- Too much hemolysis results in low numbers of RBCs that doctors call hemolytic anemia. (medicalnewstoday.com)
Cells2
- Hemolytic anemia is a condition where the body destroys red blood cells in the body faster than it produces them. (medicalnewstoday.com)
- For example, it can lead to congenital dyserythropoietic anemia type 2, a condition where the body does not produce red blood cells as expected. (medicalnewstoday.com)
Conditions1
- Conditions with an increase in plasma volume, such as during the last trimester of pregnancy, are associated with lower values without an existent anemia, because the red cell mass is normal. (medscape.com)
People3
- Acquired hemolytic anemia refers to the development of the condition in people who previously had typically functioning RBC systems. (medicalnewstoday.com)
- This graph shows the total number of publications written about "Anemia, Hemolytic, Congenital" by people in this website by year, and whether "Anemia, Hemolytic, Congenital" was a major or minor topic of these publications. (umassmed.edu)
- Below are the most recent publications written about "Anemia, Hemolytic, Congenital" by people in Profiles. (umassmed.edu)
Case report1
- 15. Congenital dyserythropoietic anemia in China: a case report from two families and a review. (nih.gov)
