Congenital dyserythropoietic anemia type II in a woman presenting with jaundice, anemia, and splenomegaly

Abali H., HAZNEDAROĞLU İ. C., SAYINALP N., KOŞAR A., BÜYÜKAŞIK Y., Ozatli D., ...Daha Fazla

Hematology, cilt.4, sa.4, ss.357-360, 1999 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 4 Sayı: 4
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1080/10245332.1999.11746459
  • Dergi Adı: Hematology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.357-360
  • Anahtar Kelimeler: Anemia, Dyserythropoiesis, Glycolyzation, HEMPAS
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

Congenital dyserythropoietic anemias (CDAs) are extremely rare types of hemolytic anemias that share similar morphological findings and are characterized by ineffective erythropoiesis. CDAs are divided into three major groups and few variants. The most frequently encountered type is CDA type II (HEMPAS: Hereditary erythroblastic multinuclearity associated with a positive acidified serum test). We herein report a case of CDA type II, who presents with a mild anemia, jaundice, splenomegaly, cholelithiasis and hemolysis. CDA type II, about 120 cases have been reported so far, has recently been discovered to be due to the defective glycolization of membrane proteins on the erythrocyte progenitors. The responsible gene has been found to be located on the Chromosome 20q only a few years ago.