Congenital dyserythropoietic anemia

Congenital dyserythropoietic anemiaCongenital dyserythropoietic anemia Description, Causes and Risk Factors: Abbreviation: CDA. The congenital dyserythropoietic anemias (CDAs) encompass a group of rare hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Three major types (CDA I, CDA II, and CDA III) and several minor subgroups have been identified. The etiology is unknown for all forms. Transmission is recessive for CDA I and CDA II, but dominant is CDA III. In a tentative phenotype-based classi?cation, most of these have been assigned to four groups designated Congenital dyserythropoietic anemia group IV, V, VI and VII. Each group contains cases from three or more unrelated families. There is evidence of phenotypic or genetic heterogeneity or both within these groups. The genetic changes responsible for Congenital dyserythropoietic anemiadisrupt the normal development of red blood cells, a process called erythropoiesis. The term "dyserythropoietic" in the name of this condition means abnormal red blood cell formation. In people with Congenital dyserythropoietic anemia, immature red blood cells called erythroblasts are unusually shaped and have other abnormalities (such as extra nuclei). These abnormal erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including hepatosplenomegaly and an abnormal buildup of iron. Several hundred cases of Congenital dyserythropoietic anemia have been reported worldwide. CDA II is the most common form of the disorder, with more than 300 reported cases. CDA III is the rarest form; it has been described in only a few families from Sweden, Argentina, and the United States. The incidence of CDA I is unknown. Because CDA is so rare and its signs and symptoms overlap with those of other disorders, many cases likely remain undiagnosed or are incorrectly diagnosed as other disorders. Symptoms: Congenital dyserythropoietic anemia I is characterized by moderate to severe anemia. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. 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 I are born with skeletal abnormalities, most often involving the fingers and/or toes. The anemia associated with Congenital dyserythropoietic anemia II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis. The signs and symptoms of Congenital dyserythropoietic anemia III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma). Diagnosis: In general, the diagnosis of the Congenital dyserythropoietic anemias requires the presence of all of four criteria:
  • Evidence of congenital anemia/jaundice or of heredity.
  • Evidence of ineffective erythropoiesis.
  • Typical morphological appearance of bone marrow erythroblasts.
  • Exclusion of congenital anemias which fulfill criteria one and two, but have been classified according to the underlying defect, such as the thalassemia syndromes, some types of pathological hemoglobins, or hereditary sideroblastic anemias.
Biological methods of diagnosis CDA I:
  • Complete blood count.
  • Light microscopy of the bone marrow.
  • Electrophoresis of the erythrocyte membrane proteins.
  • Dosage of serum bilirubin.
  • Haptoglobin and lactate dehydrogenase.
  • Sequencing of the CDAN1 gene.
Biological methods of diagnosis CDA II:
  • Complete blood count.
  • Light microscopy of the bone marrow.
  • Electrophoresis of the erythrocyte membrane proteins.
  • Dosage of serum bilirubin.
  • Haptoglobin and lactate dehydrogenase.
  • Analysis of microsatellite.
Biological methods of diagnosis CDA III:
  • Complete blood count.
  • Light microscopy of the bone marrow.
  • Dosage of serum bilirubin.
  • Light and electron microscopy of bone marrow.
Treatment: The treatment of Congenital dyserythropoietic anemia is essentially symptomatic. Management includes:
  • Hematological monitoring and surveillance of the iron status.
  • Transfusions as needed.
  • Treatment of the iron overload.
  • Treatment of viral infections.
Blood transfusions should not be given to mildly or moderately anemic patients except when their Hb (hemoglobin) falls below baseline levels during intercurrent illnesses or during pregnancy. Folate supplements are prescribed to prevent folate de?ciency secondary to an increased requirement consequent on the severe erythroid hyperplasia. Transfusion-dependent patients require subcutaneous infusions of deferoxamine to minimize tissue damage because of iron overload. As serum ferritin levels increase steadily with age, even in untransfused or infrequently transfused patients, serum ferritin levels should be monitored in all patients at least once a year. The rate of increase in serum ferritin varies in different patients and potentially dangerous levels of iron overload may develop at different ages. Iron loading seems to be positively correlated with age and the extent of increase in total erythropoietic activity. The time at which increasing iron overload should be treated in transfusion-independent patients is not yet clear as the relationship between serum ferritin and the extent of tissue overload and damage in these disorders has not been established. Treatment with subcutaneous infusions of deferoxamine or, in mildly anemic patients, regular venesection is effective in reducing the ferritin level to 500 lg/L or lower. There are no publications on the value of the oral iron chelator deferiprone in the treatment of iron overload in these disorders. Prevention of severe tissue damage secondary to iron overload is important, particularly in CDA types II and I. However, further information is needed regarding the relationship between serum ferritin levels, extent of iron overload and degree of tissue damage in Congenital dyserythropoietic anemia before de?nitive recommendations can be formulated as to the stage at which iron chelation therapy should be commenced. The possibility that deferiprone might be effective in the treatment of iron overload needs to be explored. A few cases of severe CDA have been successfully treated with HLA-matched allogeneic bone marrow transplantation. NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.  

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