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Congenital Dyserythropoietic Anemia Type 1

CDA 1


Presentation

  • Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload.[ncbi.nlm.nih.gov]
  • Discussion: We present a patient with severe fetal and infant transfusion dependent anemia who has two novel CDAN1 gene variants not previously described.[bloodjournal.org]
  • We present two patients previously diagnosed as CDA type II in whom the diagnosis was revised to CDA type I and to hereditary spherocytosis. The conditions are compared and the approach to diagnosis is discussed.[jcp.bmj.com]
Turkish
  • As expected, mutations were identical in 2 pairs of siblings (kindreds 026 and 409), and in the 2 alleles of case 447/01, the daughter of first-degree cousins of Turkish origin, both of whom were healthy heterozygotes (data not shown).[bloodjournal.org]
Splenomegaly
  • Our patient is a Taiwanese child who presented to us at 8. years of age with severe hemolytic anemia, splenomegaly, elevated fetal hemoglobin (HbF), iron overload, and dyserythropoiesis in the bone marrow.[einstein.pure.elsevier.com]
  • Abdominal ultrasound revealed mild splenomegaly and a chololithiasis, while the obstetrics ultrasonography was normal.[cureus.com]
  • Individuals with CDAII show progressive splenomegaly, gallstones and iron overload potentially with liver cirrhosis or cardiac failure. Here we show that the gene encoding the secretory COPII component SEC23B is mutated in CDAII.[f1000.com]
  • After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly.[ncbi.nlm.nih.gov]
  • This is a rare finding in CDA. 2 Case A full-term male Saudi infant presented after delivery with pallor, splenomegaly (6 cm below left costal margin) and a systolic murmur over the left precordium.[annsaudimed.net]
Palpable Spleen
  • Splenomegaly was defined as a palpable spleen or a size greater than reference values according to age and weight on ultrasound. Laboratory procedures depended on the time period in which they were performed.[bloodjournal.org]
Ptosis
  • These traits included growth retardation, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, phalangeal hypoplasia, Madelung deformity, toe sydactyly, and hallux valgus.[cags.org.ae]
Retinal Pigmentation
  • Angioid streaks (AS) are visible irregular breaks in Bruchʼs membrane, extending radially from the optic nerve head and with overlaying atrophic retinal pigment epithelium.[thieme-connect.com]
Chest Deformity
  • deformity. ( 24420417 ) El-Sheikh A.A....Vyas Y.M. 2014 41 Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. ( 23453696 ) Russo R....Iolascon A. 2013 42 Characteristic phenotypes associated[malacards.org]
Nail Deformity
  • From Wikidata Jump to navigation Jump to search Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and[wikidata.org]

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]
Anisopoikilocytosis
  • Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells and intranuclear bridging in bone marrow aspirate and spongy, unevenly condensed[unboundmedicine.com]
  • Peripheral blood smear examination showed prominent anisopoikilocytosis, basophilic stippling, and the presence of erythroblasts. Serum chemistry showed high lactate dehydrogenase levels (LDH) at 231 IU/L and indirect bilirubin at 4.7 mg/dl.[cureus.com]
  • […] findings diagnosis of CDA-I was made.DiscussionCDA I is a rare clinical entity that has been reported mainlyfrom the Central and Western European countries andNorth Africa with very few cases reported from IndianSubcontinent [1].Fig. 1 Blood smear a Anisopoikilocytosis[docslide.com.br]
  • Peripheral blood smear showed anisopoikilocytosis, basophilic stippling and binucleated normoblasts (Figure 1 ). The Ham’s test was negative, possibly because of a small amount of normal sera used.[wjgnet.com]
  • The blood smear always showed anisopoikilocytosis as described elsewhere, 10 , 19 with basophilic stippled erythrocytes in all and Cabot rings in 3 cases. Absolute reticulocyte counts were normal or moderately increased.[bloodjournal.org]
Anisocytosis
  • His peripheralsmear examination and bone marrow aspiration was done.In peripheral smear RBCs showed anisocytosis andpoikilocytosis with presence of macrocytes and tear dropcells.[docslide.com.br]
  • 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]
Hemoglobin Decreased
  • If the direct antiglobulin test is negative, hemolysis in infancy can usually be recognized if the reticulocyte count is increased and/or the hemoglobin decreases rapidly in the absence of hemorrhage.[oncologynurseadvisor.com]
Poikilocytosis
  • 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]

Treatment

  • Response to the treatment was monitored using the blood count and reticulocyte count. The patient was age 14 when interferon treatment was started.[ncbi.nlm.nih.gov]
  • After all tests are completed, doctors will be able to outline the best treatment options.[danafarberbostonchildrens.org]

Prognosis

  • […] numbers of cases and no data on the lifetime evolution of the disease. [3] Types include: Differentiating Congenital dyserythropoietic anemia from Other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis[wikidoc.org]
  • 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]
  • Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E (2003) Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term[link.springer.com]
  • Heimpel H et al (2006) Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. Blood 107:334–340 CrossRef PubMed Google Scholar 9.[doi.org]
  • Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood. 2003 Dec 15;102(13):4576-81. Epub 2003 Aug 21. Review.[ghr.nlm.nih.gov]

Etiology

  • Thus, we should be aware of the possibility of CDA if the etiology of congenital anemia or jaundice cannot be clearly elucidated.[ncbi.nlm.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]
  • Main The congenital dyserythropoietic anemias (CDA) are a rare group of disorders of unknown etiology characterized by marked ineffective erythropoiesis, secondary hemochromatosis and specific cytopathologic findings in the nucleated erythrocytes on bone[nature.com]
  • 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

  • […] exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease. [3] Types include: Differentiating Congenital dyserythropoietic anemia from Other Diseases Epidemiology[wikidoc.org]
  • Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood. 2003 Dec 15;102(13):4576-81. Epub 2003 Aug 21. Review.[ghr.nlm.nih.gov]
  • Congenital dyserythropoietic anemias: epidemiology, clinical significance and progress in understanding their pathogenesis. Ann Hematol . 2004 ; 83 : 613 -621. Wickramasinghe SN.[bloodjournal.org]
  • Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol . 2004; 83 :613-621. [ PubMed ] [ DOI ] 2.[wjgnet.com]
Sex distribution
Age distribution

Pathophysiology

  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.com]
  • […] 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. [1] Historical Perspective Classification Pathophysiology[wikidoc.org]
  • Myelofibrosis with myeloid metaplasia: pathophysiologic implications of the correlation between bone marrow changes and progression of splenomegaly. Blood 1985;65:803–809. 9. Haidar R, Mhaidli H, Taher AT.[synapse.koreamed.org]

Prevention

  • How does fluoride prevent tooth decay? Fluoride has a positive effect on oral health by making teeth more resistant to decay. Fluoride can also prevent or even reverse tooth decay that has started. 3.[cda-adc.ca]
  • (K2.1 C2, CDA 1) 2 hours Bed bugs are commonly introduced into child care settings, and may become established without proper preventive steps.[extension.psu.edu]
  • 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. [1] Historical Perspective[wikidoc.org]
  • Enlarged liver * Enlarged spleen * Iron overload * Finger bone abnormalities * Toe bone abnormalities * Thin nails * Scoliosis Causes - Dyserythropoietic anemia- congenital type 1 * Anemia * Enlarged liver * Enlarged spleen * Scoliosis * Thin nails Prevention[checkorphan.org]
  • This reduction prevents blood carry adequate oxygen to body tissues. The resulting symptoms can include fatigue, weakness, pale skin, and other complications. We have identified three main types of CDA: type I, type II and type III.[ivami.com]

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