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]

  ABSTRACT Introduction: Congenital dyserythropoietic anemias belong to a group of hereditary disorders characterized by refractory anemia, ineffective erythropoiesis and morphological alterations of erythroblasts. [pesquisa.bvsalud.org]

  anemia type III - is defined by mild anemia and retinal degeneration. [15] Congenital dyserythropoietic anemia type IV - is defined by having severe anemia at birth (type V and VI are recognized). [16] [13] Treatment [ edit ] Treatment of individuals [en.wikipedia.org]

• 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]

• Turkish

  Ethnic origin other than those of the countries of residence included the following (with number of patients in parentheses): Albanian (1), Greek (2), Italian (2), Romanian (1), Sinti (1), Spanish (1), and Turkish (2). [doi.org]

• 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 hypothesize that coinheritance of variants in relevant erythrocyte genes contribute to the clinical course in our patient and other E325K-linked congenital dyserythropoietic anemia IV patients with severe clinical phenotypes. [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]

• Cardiomegaly

  Case report: The female fetus of a gravida 2 para 1 woman was noted to have hepatomegaly, cardiomegaly, and elevated middle cerebral artery velocity concerning for severe intrauterine anemia at approximately 20 weeks gestation. [bloodjournal.org]

  DISCUSSION This patient with CDA type 1 had severe anemia during the fetal period, accompanied by fetal cardiomegaly and heart failure. [journals.lww.com]

• 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]

• 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]

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]

• 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]

• 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]

• 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]

PMID 19150496. ^ "Ferritin: Reference Range, Interpretation, Collection and Panels". 2018-07-05. ^ "Monitoring Treatment | Treatment and Management | Training & Education | Hemochromatosis (Iron Storage Disease) | NCBDDD | CDC". www.cdc.gov. [en.wikipedia.org]

Treatment protocols are similar to other hereditary hemolytic anemias, although the use of Interferon-α stands out(AU) [pesquisa.bvsalud.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]

[…] 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]

"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. [en.wikipedia.org]

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]

* 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]

[…] 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]

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]

"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. [en.wikipedia.org]

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]

Despite the progress in genetics and pathophysiology, the primary molecular lesion remains speculative. No information exists on the frequency and the clinical relevance of complications. [doi.org]

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]