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]

Patients often present with anemia, jaundice, and variable splenomegaly. Most cases of CDA II are diagnosed at a young age; some patients, however, may remain unrecognized until late adulthood. [scholars.northwestern.edu]

• Beta Thalassaemia Major

  Beta thalassaemia major patients may have the greatest iron overload because their iron absorption is also increased [ 1 ]. Other causes of iron overload Liver disease. Excessive iron intake or supplementation. Porphyria cutanea tarda. [patient.info]

• Anemia

  II, SEC23B-CDG, CDA II, Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test, CDAN2, Dyserythropoietic Anemia, Congenital, Type 2, ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II; CDAN2, Congenital dyserythropoietic anemia type [monarchinitiative.org]

  We report a case of CDA II diagnosed in a 48-year-old woman with a longstanding history of anemia of unknown etiology.", keywords = "Anemia, Congenital dyserythropoietic anemia type II (CDA II), Dyserythropoiesis, Hereditary erythroblastic multinuclearity [scholars.northwestern.edu]

  […] onset of severe anemia resulting in cardiac failure and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to severity of anemia. [journals.lww.com]

  Entry H00917 Disease Name Congenital dyserythropoietic anemias (CDAs) Description Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts [genome.jp]

  TY - JOUR T1 - Congenital dyserythropoietic anemia type I with ringed sideroblasts. [unboundmedicine.com]

• Congestive Heart Failure

  In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. [rarediseases.info.nih.gov]

  In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). [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

  We present a patient with CDA type 1 who had severe anemia develop during the fetal period resulting in cardiac failure and death. CASE REPORT The patient was born to nonconsanguineous, healthy parents without a family history of anemia. [journals.lww.com]

  What features of the presentation will guide me toward possible causes and next treatment steps: A careful history and examination is essential, paying particular attention to obstetric and family history, ethnicity, examination for pallor with or without [oncologynurseadvisor.com]

• Heart Failure

  The patient's diagnosis was heart failure caused by mitral valve insufficiency due to congenital atrioseptal defect associated with congenital dyserythropoietic anemia type III (CDA III). [ncbi.nlm.nih.gov]

  In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. [rarediseases.info.nih.gov]

  Manifestation of congestive heart failure is rare (1,6). [journals.lww.com]

  In patients with thalassaemia, cardiac iron overload may present as reduced exercise tolerance or with features of right-sided heart failure. [patient.info]

• Hydrops Fetalis

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

• Hypertelorism

  Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features (large anterior fontanel, hypertelorism, micropenis, and hypospadias) have also been reported. [orpha.net]

  Diamond Blackfan anemiacan present at birth, although it usually presents at around three months of age; low birth weight and congenital anomalies of the head (microcephaly, cleft palate, hypertelorism), neck (webbed) and radial aspects of the arm (thumb [oncologynurseadvisor.com]

• Epistaxis

  […] well as from adaptive changes, particularly in the cardiovascular system. 1, 2 The nature and severity of symptoms is influenced by: Table 6.2 Clinical history in the investigation of anemia History Mechanism Examples Current illness Acute hemorrhage Epistaxis [clinicalgate.com]

• Large Anterior Fontanels

  Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features (large anterior fontanel, hypertelorism, micropenis, and hypospadias) have also been reported. [orpha.net]

A convenient way to organize and think through the workup of an anemic infant would be: 1. [oncologynurseadvisor.com]

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]

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]

• Enlargement of the Liver

  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]

• Erythroblast

  Heritability: Autosomal recessive inheritance AKA: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II, CDA type 2, Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas), Dyserythropoietic Anemia, Hempas Type, Cda 2, CDA type [monarchinitiative.org]

  The congenital dyserythropoietic anemias (CDAs) are a group of rare hereditary disorders characterized by ineffective erythropoiesis and distinct morphologic abnormalities of the erythroblasts in the bone marrow. [scholars.northwestern.edu]

  Bone marrow aspiration at age 19 days showed mild dyserythropoietic findings with scattered binuclear erythroblasts (nuclear cell count[colon] 43,500/[mgr]L, myeloblast[colon]erythroblast ratio [equals] 2.06). [journals.lww.com]

  The proliferation and differentiation course of the majority of CDA III erythroblasts was similar to that of normal erythroblasts. [ncbi.nlm.nih.gov]

• Macrocytic Anemia

  This report describes a case of congenital dyserythropoietic anemia (CDA) type I diagnosed in a 22-year-old woman with a two year history of macrocytic anemia. [ncbi.nlm.nih.gov]

  Three types are described: type I [MIM224120], macrocytic, megaloblastic anemia with erythroblastic internuclear chromatin bridges; type II, [MIM*224100], normoblastic anemia with multinucleated erythroblasts; type III, macrocytic anemia with erythroblastic [medical-dictionary.thefreedictionary.com]

• 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]

  Ineffective erythropoiesis results in an anemia of variable severity associated with a mild macrocytosis, a normal, or at most slightly elevated, absolute reticulocyte count, a moderate increase in unglycosylated (indirect) bilirubin, a low haptoglobin [accessmedicine.mhmedical.com]

• Hemoglobin Decreased

  Cord blood hemoglobin (Hb) at birth in full term infants is 16-17g/dL, does not decrease appreciably during the first week of life, and then declines slowly to a physiological nadir of 11g/dL by 8-12 weeks. [oncologynurseadvisor.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]

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]

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]

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]

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]

Prognosis The prognosis depends on the underlying condition and the degree of iron overload - for example: For thalassaemia major (one of the most severe forms of iron overload): Without chelation, the iron overload causes death in the teenage years or [patient.info]

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]

We report a case of CDA II diagnosed in a 48-year-old woman with a longstanding history of anemia of unknown etiology. [scholars.northwestern.edu]

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

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

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

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]

Heimpel H (2004) Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol 83:613–621 PubMed CrossRef Google Scholar 5. [link.springer.com]

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]

[…] 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]

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]

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]

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]

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]

Protein coding - H3BPZ6 - 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS. CDS 5' and 3' incomplete Transcript Support Level 3, when transcripts are supported by a single EST only. [asia.ensembl.org]

Tips to preventing infection: Washing hands, both yours and your visitors, is the best way to prevent the spread of infection. [oncolink.org]