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]

• Anemia

  We suggest that similar to congenital dyserythropoietic anemia type I, distal anomalies may appear in some patients with congenital dyserythropoietic anemia types II and III. [ncbi.nlm.nih.gov]

• Pallor

  Age at onset of pallor ranged from birth to 9 years. Blood transfusion requirements varied from nil to monthly. This is the first report of CDA type I from India. [ncbi.nlm.nih.gov]

  On the other hand chronic blood loss is characterized by pallor out of proportion to distress and possibly signs of congestive cardiac failure, including hepatomegaly. [oncologynurseadvisor.com]

  Symptoms & Diagnosis The most common symptoms of CDA include: Fatigue Lack of energy Jaundice Pale skin (pallor) Enlarged spleen or liver Formation of gallstones Skeletal abnormalities, including missing fingers and toes CDA is diagnosed with: Blood tests [danafarberbostonchildrens.org]

  Physical signs include pallor, signs of a hyperkinetic circulation (tachycardia, wide pulse pressure with capillary pulsation, cardiac murmurs), signs of congestive cardiac failure, and hemorrhages and exudates in the retina. [clinicalgate.com]

• Family History of Anemia

  CASE REPORT The patient was born to nonconsanguineous, healthy parents without a family history of anemia. The mother, gravida 3, para 2, had a stillbirth of unknown cause at 38 weeks gestations. [journals.lww.com]

• Respiratory Distress

  A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse edema, hepatosplenomegaly, ascites, pulmonary edema and respiratory distress, and shortness and hallux varus deformity of the great toe of the right foot was diagnosed to [ncbi.nlm.nih.gov]

• Severe Clinical Course

  We identified a child with KLF1-E325K congenital dyserythropoietic anemia type IV who experienced a severe clinical course, fetal anemia, hydrops fetalis, and postnatal transfusion dependence only partially responsive to splenectomy. [ncbi.nlm.nih.gov]

  These patients display a severe clinical course and require regular transfusions. In none of them has any other B criterion been positive. [doi.org]

• Chronic Abdominal Pain

  A 24-year-old white female with a 10-year history of juvenile rheumatoid arthritis and splenomegaly developed numerous circulating nucleated red blood cells (NRBC) following splenectomy for chronic abdominal pain. [ncbi.nlm.nih.gov]

• Hypoplastic Nails

  Distal limb anomalies including syndactyly, hypoplastic nails, and duplication of fourth metatarsal bone were described in 4%-14% of affected individuals. Lumbar scoliosis resulting from a partly duplicated L3 vertebra was also described. [ncbi.nlm.nih.gov]

• Cutaneous Manifestation

  This association may suggest a stem cell defect to cause both hematopoietic and cutaneous manifestations. [ncbi.nlm.nih.gov]

• Piebaldism

  Here we presented a piebald woman with vaginal atresia who was tested for anemia and diagnosed as CDA type II. Piebaldism and anemia association were previously described in the mouse. [ncbi.nlm.nih.gov]

• Absent Nails

  Three of the four affected family members with congenital dyserythropoietic anemia type III had partial absence of fingers, small or absent nails, overlapping toes, and short metatarsals. [ncbi.nlm.nih.gov]

• Withdrawn

  In both patients 400 ml of blood were withdrawn every month. During three years 12 200 ml of blood were removed. The serum ferritin levels decreased from 1450,4 microg/L and 1131,7 microg/L to 447 microg/L and 457 microg/l, respectively. [ncbi.nlm.nih.gov]

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]

In 2 exceptional cases, long-standing moderate anemia was investigated in the workup of an unrelated disorder, and the correct diagnosis was recognized at 62 and 78 years, respectively. [doi.org]

• Mediastinal Mass

  Thus unexpected correction of a chronic refractory anemia associated with the appearance of mediastinal masses might be the heralding manifestation of an effective extramedullary hemopoiesis. [ncbi.nlm.nih.gov]

• Macrocytic Anemia

  Electron microscopy may be an important tool for the diagnosis of macrocytic anemia of obscure origin, especially in young patients. [ncbi.nlm.nih.gov]

• Macrocytosis

  Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. [ncbi.nlm.nih.gov]

  The disorder is characterized by mild anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts (containing up to 12 nuclei) in the bone marrow. [rarediseases.info.nih.gov]

  Three major types have been described: Type I with macrocytosis, Type II (HEMPAS) with abnormal RBC antigens,and Type III with gigantoblasts. [nature.com]

• Reticulocytes Increased

  On this treatment, hemoglobin and reticulocytes increased and transfusions became unnecessary. In keeping with a few previous reports, interferon alpha2b proved to be effective in congenital dyserythropoietic anemia, type 1. [ncbi.nlm.nih.gov]

• 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]

• Human Parvovirus B19

  Infection with human parvovirus B19 is known to cause transient erythroid aplasia in children with hemolytic anemia but has also been associated with bone marrow necrosis and morphologic changes suggesting myelodysplasia. [ncbi.nlm.nih.gov]

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]

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]

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]

[…] 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]

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 PubMed CrossRef Google Scholar 2. [link.springer.com]

"Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation". Blood. 102 (13): 4576–4581. doi : 10.1182/blood-2003-02-0613. ISSN 0006-4971. [ipfs.io]

* Hydrops Fetalis/therapy Infant Infant, Newborn Jaundice, Neonatal/diagnosis Jaundice, Neonatal/etiology Jaundice, Neonatal/therapy Microscopy, Electron Phototherapy Pregnancy [ncbi.nlm.nih.gov]

Etiology Etiology of CDA is not fully defined. [orpha.net]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Summary Epidemiology The prevalence is unknown. Only 4 cases have been reported to date. Clinical description Patients have been described as having severe anemia at birth that requires repeated transfusions. [orpha.net]

[…] establishing a comprehensive registry of patients with CDA (CDAR) in North America, with the goal to collect long-term phenotypic data and create a bio-repository of de-identified patient blood and bone marrow specimens as a tool for the investigation of epidemiology [cincinnatichildrens.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]

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]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Next-generation sequencing (NGS) is a methodology that can interrogate large regions of genomic DNA in a single assay. [mayomedicallaboratories.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]

Splenectomy, performed in 22 cases, led to moderate increases in hemoglobin values and eliminated the need for transfusions but did not prevent further iron loading. [ncbi.nlm.nih.gov]

Early recognition of CDA II is important to prevent end-organ damage secondary to iron overload, the most important complication of the disease. [scholars.northwestern.edu]