Natural history of congenital dyserythropoietic anemia type II.

Istituto di Pediatria, Università di Foggia, Italy.
Blood (Impact Factor: 9.78). 08/2001; 98(4):1258-60. DOI: 10.1182/blood.V98.4.1258
Source: PubMed

ABSTRACT Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive disease characterized by anemia, jaundice, splenomegaly, and erythroblast multinuclearity. The natural history of the disease is unknown. The frequency, the relevance of complications, and the use of splenectomy are poorly defined. This study examined 98 patients from unrelated families enrolled in the International Registry of CDA-II. Retrospective data were obtained using an appropriate questionnaire. The mean age at presentation was 5.2 +/- 6.1 years. Anemia was present in 66% and jaundice in 53.4% of cases. The mean age at correct diagnosis was 15.9 +/- 11.8 years. Twenty-three percent of patients for whom data were available developed anemia during the neonatal period, and 10 of these individuals required transfusions. Splenectomy produced an increased hemoglobin (P <.001) and a reduced bilirubin level (P =.007) in comparison with values before splenectomy. Preliminary data indicate that iron overload occurs irrespective of the hemochromatosis genotype. (Blood. 2001;98:1258-1260)

  • [Show abstract] [Hide abstract]
    ABSTRACT: Performance deterioration with time is one of the most important issues in a vacuum insulation panel (VIP), which is mostly due to the inner gas pressure rise. Outgassing from the interior of core materials is the major gas source when the core material is a polymer. Outgassing characteristics of a polycarbonate as the VIP’s core material are examined theoretically and experimentally. To measure the outgassing rate, specific outgassing tests are carried out using a pressure rise method. Diffusive outgassing mechanism is discussed based on the Fick’s law. As the result, the total amount of dissolved gas and the diffusion coefficients of various gases in the polycarbonate are obtained by using the measured outgassing rate. Temperature dependence of the diffusion coefficient of nitrogen is also examined. It is shown that the outgassing rate of polymer core materials can be significantly reduced to a negligible level by a baking pre-treatment in vacuum and/or by a metal coating on the polymer surface.
    Vacuum 02/2011; 85(8):839-846. · 1.43 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: CDA are a group of inherited, rare diseases that are characterized by dyserythropoiesis and ineffective erythropoiesis associated with transfusion dependency in approximately 10% of cases. For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease. Herein, we report a five-yr six-month-old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor.
    Pediatric Transplantation 04/2014; · 1.63 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Ein 6 Monate alter blasser Säugling wird im sozialpädiatrischen Zentrum wegen Entwicklungsrückschritten vorgestellt. Bei der U4 war ein altersgerechter Entwicklungsstatus dokumentiert worden. Jetzt hat das Kind beim Traktionsversuch keine Kopfkontrolle mehr, freies Sitzen hat es verlernt. Es fällt ferner auf, dass das voll gestillte Kind in den letzten 3 Wochen kein Gewicht zugenommen hat. Da die Mutter eine Blutentnahme zunächst ablehnt, wird unter der Verdachtsdiagnose Vitamin-B12-Mangel Spontanurin untersucht, der eine erhöhte Ausscheidung von Methylmalonsäure zeigt. In der wenig später doch gewonnen Blutprobe ist der Serum-Vitamin-B12-Spiegel deutlich erniedrigt. Im Blutbild finden sich Hämoglobin 5,7 g/dl, MCV 127 fl, Retikulozyten 50 Promille, Thrombozyten 100.000/μl und Leukozyten 3800/μl. Die erweiterte Anamnese erbringt, dass sich die Mutter als Veganerin seit mehreren Jahren und auch während der Schwangerschaft und Stillperiode ohne tierisches Eiweiß ernährt. Bei normalen Blutbildwerten hat sie eine deutlich erniedrigte Vitamin-B12 Serumkonzentration.

Similar Publications