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Congenital Dyserythropoietic Anemia Type 3

Congenital Dyserythropoietic Anemia Type III


Presentation

  • 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.[haematologica.org]
  • Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References 7 Further reading 8 External links Presentation [ edit ] The signs and symptoms of CDA type III tend to be milder than those of the other types.[en.wikipedia.org]
  • Results are presented as MCF ratios, standard deviation, and range.[omicsonline.org]
  • The control shows the 425-bp product (wild-type, W.T.); (1) Patient A4: Two bands (456-bp and 425-bp) were present.[ojrd.biomedcentral.com]
  • Clinical description The clinical presentation is variable. CDA III can manifest with mild anemia and jaundice in neonates but it may not be discovered until childhood or adulthood.[rarediseases.info.nih.gov]
Italian
  • Methods Patients We collected blood samples from 16 unrelated Italian CDAII patients belonging to 16 families and 100 unrelated Italian controls (included in the DNA sequence analyses).[ojrd.biomedcentral.com]
  • }", year "1980", language "Italian", volume "2", pages "29--31", journal "Pediatria Medica e Chirurgica", issn "0391-5387", publisher "Vicenza Pediatria Medica E Chirurgica", number "1", } TY - JOUR T1 - ANEMIA DISERITROPOIETICA CONGENITA PAUCISINTOMATICA[moh-it.pure.elsevier.com]
  • D'Alcamo E, Agrigento V, Sclafani S, Vitrano A, Cuccia L, et al. (2011) Reliability of EMA binding test in the diagnosis of hereditary spherocytosis in Italian patients. Acta Haematol 125: 136-140.[omicsonline.org]
Lymphedema
  • Disease Type of connection Hemolytic anemia due to red cell pyruvate kinase deficiency Peutz-Jeghers syndrome 17p13.3 microduplication syndrome Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema Distal 17p13.3 microdeletion[csbg.cnb.csic.es]
Infertility
  • Treatment - Dyserythropoietic anemia- congenital type 3 * Womens Health Specialists: o Obstetrics & Gynecology o Reproductive Endocrinology & Infertility o Gynecological Oncology o Maternal & Fetal Medicine o Neonatal-Perinatal Medicine * Child Health[checkorphan.org]
Scleral Icterus
  • Our patient had scleral icterus at presentation, but no organomegaly was identified. Transfusion dependence is seen in approximately in 10% of CDA II patients during infancy and early childhood, but usually resolves with age.[link.springer.com]
Visual Impairment
  • Quality of life may be affected in those with visual impairment. Last updated: 9/27/2013[rarediseases.info.nih.gov]
  • It can also be associated with monoclonal gammopathies, multiple myeloma (see this term) and retinal angioid streaks,which can lead to visual impairment.[malacards.org]
Long Arm
  • The genetic cause of CDA type III is known to be a problem with the KIF23 gene, located on the long arm of chromosome 15 at a position designated 15q22. Type OMIM Gene Locus CDAN3 105600 KIF23 15q21 Diagnosis [ edit ] This section is empty.[en.wikipedia.org]
  • It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q21-q25. Researchers continue to search for the specific gene associated with this form of the condition.[medigoo.com]
  • Genome-wide linkage analysis relegated genetic mutations to the long arm of chromosome 20 in a region referred as the CDAN 2 locus [ 10 ]; however, the majority of specific candidate genes within this region had been excluded [ 11 ].[link.springer.com]
Myopathy
  • Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate nemaline myopathy Severe congenital nemaline myopathy Typical nemaline myopathy Synonym(s): - CDA III - CDA type 3 - CDA type III - Congenital[csbg.cnb.csic.es]

Workup

  • These assays are routinely performed in the diagnostic workup of DAT-negative hemolytic anemia. It is unknown if flow cytometry with EMA and monoclonal antibodies against CD55 and CD59 can be used to identify samples from CDA III patients.[omicsonline.org]
  • A convenient way to organize and think through the workup of an anemic infant would be: 1.[oncologynurseadvisor.com]
Poikilocytosis
  • Affiliated tissues include bone, bone marrow and eye, and related phenotypes are anemia and poikilocytosis OMIM : 58 Congenital dyserythropoietic anemia type III is a rare disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis[malacards.org]
  • The peripheral blood smear examination revealed varying degrees of anisocytosis, poikilocytosis, hypochromia and tear drop cells. The cellularity of marrow on trephine biopsy ranged from normo to hyper-cellular. Erythroid hyperplasia was striking.[indianpediatrics.net]
Bone Marrow with Hyperplasia
  • Congenital dyserythropoietic anemia type III Specialty Hematology Congenital dyserythropoietic anemia type III ( CDA III ) is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multinucleate[en.wikipedia.org]

Treatment

  • You can help by adding to it. ( December 2017 ) Treatment [ edit ] Treatment consists of frequent blood transfusions and chelation therapy. Potential cures include bone marrow transplantation and gene therapy.[en.wikipedia.org]
  • Treatment: Usually, no special treatment is needed. The patient should be seen by a specialist of Pediatrics or Internal Medicine in suitable intervals, and also by an ophthalmologist since changes endangering the vision may develop.[medigoo.com]
  • Management and treatment In most cases anemia is mild and treatment is not necessary. Only during times of extreme anemia (often due to pregnancy or surgery), may a transfusion be needed.[rarediseases.info.nih.gov]
  • Treatment - Dyserythropoietic anemia- congenital type 3 * Womens Health Specialists: o Obstetrics & Gynecology o Reproductive Endocrinology & Infertility o Gynecological Oncology o Maternal & Fetal Medicine o Neonatal-Perinatal Medicine * Child Health[checkorphan.org]
  • III-like cases have been reported with an autosomal recessive pattern of inheritance, suggesting a different genetic alteration than KIF23 associated CDA III and possibly another subtype of CDA.Management and treatmentIn most cases anemia is mild and treatment[malacards.org]

Prognosis

  • Prognosis In most cases the prognosis is good and there is no decrease in life expectancy. Quality of life may be affected in those with visual impairment. Last updated: 9/27/2013[rarediseases.info.nih.gov]
  • Fatigue: Related Home Tests: o Home Anemia Tests o Home Thyroid Function Tests o Home Adrenal Function Tests o Home Calcium Deficiency Tests o Home HIV Tests * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests Prognosis[checkorphan.org]
  • Ophthalmological follow-up is recommended in those with eye manifestations.PrognosisIn most cases the prognosis is good and there is no decrease in life expectancy.[malacards.org]
  • Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]

Etiology

  • Etiology Recently, the KIF23 gene (15q23) has been identified as the causal mutation for AD CDA III. This gene encodes mitotic kinesin-like protein 1 (MKLP1) which is crucial for cytokinesis.[rarediseases.info.nih.gov]
  • EM studies would be an important tool in diagnosis of Congenital dyserythropoietic anemia typeIII particularly during investigations of anemia of obscure etiology in aged person in which the diagnosis first seem to be improbable.[medigoo.com]
  • Etiology Etiology of CDA is not fully defined.[orpha.net]
  • It may be acquired through: immune etiologies(Rh, ABO or other blood group incompatibility, maternal autoimmune, drugs) infectious etiologies(bacterial sepsis, rubella, CMV, disseminated herpes simplex virus, adenovirus, toxoplasmosis, malaria, syphilis[oncologynurseadvisor.com]

Epidemiology

  • - Congenital dyserythropoietic anemia type 3 Classification (Orphanet): - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological[csbg.cnb.csic.es]
  • Epidemiology The prevalence is unknown. Three families have been reported with autosomal dominant CDA III in Sweden, America and Argentina. Other sporadic CDA III-like cases have been described. In total, about 60 cases have been reported worldwide.[rarediseases.info.nih.gov]
  • The goal of this registry will be to collect long-term confidential data on patients with CDA in the US, Canada, and Mexico and create a bio-repository of de-identified patient blood and bone marrow specimens as a tool for the investigation of epidemiology[clinicaltrials.gov]
  • Summary Epidemiology A global CDA prevalence figure is not precisely known. Over a 42 year period (1967-2009), 122 CDA I and 367 CDA II cases were reported in Europe.[orpha.net]
  • Heimpel H (2004) Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol 83:613–621 CrossRef PubMed Google Scholar 4.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • It is simple and convenient to use a pathophysiological approach that considers the etiology from the outside-in, (i.e., hemorrhage, vascular damage, plasma factors, membrane abnormalities, metabolic conditions and hemoglobinopathies).[oncologynurseadvisor.com]

Prevention

  • Prevention - Dyserythropoietic anemia- congenital type 3 Not supplied.[checkorphan.org]
  • Mechanistically we demonstrate that HTRA1 hydrolyses TSP-1, preventing its ability to activate CD47 and induce MP elimination.[tigem.it]
  • This prevents the circulatory system from delivering enough oxygen to the organs and tissues.[healthline.com]
  • This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues, resulting in various symptoms of anemia including: tiredness (fatigue), weakness, pale skin, and other similar complications.[slideshare.net]
  • Therefore, early recognition of CDA II is important in preventing end-organ damage secondary to iron overload [ 29 ].[link.springer.com]

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