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Congenital Dyserythropoietic Anemia

CDA


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]
  • In this article the seventh case of neonatal congenital dyserythropoietic anemia presenting with a very severe (lethal) form of hydrops fetalis and a new (hallux varus) deformity of the great toe of the right foot is presented.[ncbi.nlm.nih.gov]
  • The laboratory findings on this patient and family members and a brief review of the literature are presented.[ncbi.nlm.nih.gov]
  • Herein we present a 3-year-old male with congenital dyserythropoietic anemia type II who presented with stroke-like symptoms, and was diagnosed with fibromuscular dysplasia.[ncbi.nlm.nih.gov]
  • We report a CDA1 patient who as a newborn presented with macrocytic anemia and persistent pulmonary hypertension of the newborn (PPHN) requiring mechanical ventilation.[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]
  • Congenital dyserythropoietic anemia should be considered in the differential diagnosis of hydrops fetalis presenting with a very severe anemia and a skeletal abnormality of the great toe.[ncbi.nlm.nih.gov]
  • Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading.[ncbi.nlm.nih.gov]
  • Iron chelation was unsuccessful in controlling iron overload, but phlebotomies proved effective without aggravating the anemia. We believe the anemia represents a variant of congenital dyserythropoietic anemia, type I.[ncbi.nlm.nih.gov]
  • We describe a patient who presented with severe anemia and ectodermal dysplasia. This is a case report of a patient whose anemia was evaluated at New York Hospital and then returned to Australia where further testing was performed.[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]
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 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]
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]
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]
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]
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]

Workup

  • 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]
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]
  • Congenital dyserythropoietic anemia (CDA) type-1 is a rare genetic disorder of ineffective erythropoiesis, which manifests in macrocytic anemia.[ncbi.nlm.nih.gov]
  • CDA type I in young adults is characterized by moderate macrocytic anemia, more severe in women, and a tendency to cholelithiasis and secondary progressive iron overload.[ncbi.nlm.nih.gov]
  • 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]
  • Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited hematological disorder characterized by macrocytic anemia and ineffective erythropoiesis with pathognomonic morphological features that include internuclear chromatin bridges, spongy[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]
  • Congenital dyserythropoietic anemia type III is a rare disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow (Lind et al., 1995).[ncbi.nlm.nih.gov]
  • […] 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 have congenital dyserythropoietic anemia on the basis of the hematological (macrocytosis[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
  • 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]
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]
Microcytosis
  • Distinct microcytosis/hypochromia with MCV below 70 fL or MCH concentration below 25 pg is not present in CDA II, except in rare cases with additional iron deficiency or heterozygous thalassemia. 40 The severity of the anemia is variable, with about 10%[doi.org]

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]
  • The mean ferritin level decreased from 585 180 ng/ml at baseline to 522 172 ng/ml at the end of 6-month treatment and 660 256 ng/ml 6 months after cessation of omeprazole treatment (p 0.009).[ncbi.nlm.nih.gov]
  • Treatment of anemia with the usual hematinics is without effect and 15% of patients need chronic transfusions. Successful treatment of CDA I with interferon-alpha was noted.[ncbi.nlm.nih.gov]
  • Our observation confirms that phlebotomies can be used with success in CDA patients with mild anemia as treatment modality of iron overload.[ncbi.nlm.nih.gov]
  • For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease.[ncbi.nlm.nih.gov]

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]
  • 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]

Etiology

  • * 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]
  • 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]

Epidemiology

  • 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]
  • 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]
  • […] 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]
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]
  • 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]
  • 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]

Prevention

  • 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]
  • We suggest that iron overload in this patient population should be monitored and chelation therapy initiated when indicated to prevent organ damage[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]
  • Tips to preventing infection: Washing hands , both yours and your visitors, is the best way to prevent the spread of infection.[oncolink.org]

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