Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.
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Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. / Heimpel, Hermann; Anselstetter, Volker; Chrobak, Ladislav; Denecke, Jonas; Einsiedler, Beate; Gallmeier, Kerstin; Griesshammer, Antje; Marquardt, Thorsten; Janka-Schaub, Gritta; Kron, Martina; Kohne, Elisabeth.
in: BLOOD, Jahrgang 102, Nr. 13, 13, 2003, S. 4576-4581.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.
AU - Heimpel, Hermann
AU - Anselstetter, Volker
AU - Chrobak, Ladislav
AU - Denecke, Jonas
AU - Einsiedler, Beate
AU - Gallmeier, Kerstin
AU - Griesshammer, Antje
AU - Marquardt, Thorsten
AU - Janka-Schaub, Gritta
AU - Kron, Martina
AU - Kohne, Elisabeth
PY - 2003
Y1 - 2003
N2 - Congenital dyserythropoietic anemia type II (CDA II) is the most frequent type of congenital dyserythropoietic anemia. More than 200 cases have been described, but with the exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease. Since 1967, we were able to follow 48 cases of CDA II from 43 families for up to 35 years. All patients exhibit chronic anemia of variable severity requiring regular red cell transfusions only in a minority of children; 60% developed gallstones before the age of 30 years, and 16 patients had cholecystectomy between 8 and 34 years of age. Iron overload was a frequent complication. In 16 cases, iron depletion started between 7 and 36 years. Three patients died from secondary hemochromatosis. 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. The current recommendation is to consider splenectomy if the anemia compromises patients' performance, and to manage iron overload according to the guidelines derived from patients with thalassemia.
AB - Congenital dyserythropoietic anemia type II (CDA II) is the most frequent type of congenital dyserythropoietic anemia. More than 200 cases have been described, but with the exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease. Since 1967, we were able to follow 48 cases of CDA II from 43 families for up to 35 years. All patients exhibit chronic anemia of variable severity requiring regular red cell transfusions only in a minority of children; 60% developed gallstones before the age of 30 years, and 16 patients had cholecystectomy between 8 and 34 years of age. Iron overload was a frequent complication. In 16 cases, iron depletion started between 7 and 36 years. Three patients died from secondary hemochromatosis. 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. The current recommendation is to consider splenectomy if the anemia compromises patients' performance, and to manage iron overload according to the guidelines derived from patients with thalassemia.
M3 - SCORING: Zeitschriftenaufsatz
VL - 102
SP - 4576
EP - 4581
JO - BLOOD
JF - BLOOD
SN - 0006-4971
IS - 13
M1 - 13
ER -
