Congenital dyserythropoietic anaemia. 1989

N Prasher, and B S Prasher

A case of congenital dyserythropoietic anaemia presented with recurrent jaundice and painful splenomegaly. There was binuclearity, internuclear chromatin bridges, megaloblastic changes in erythrocyte precursors and positive acidified serum test with normal serum.

UI MeSH Term Description Entries
D007565 Jaundice A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction. Icterus,Jaundice, Hemolytic,Hemolytic Jaundice,Hemolytic Jaundices,Jaundices, Hemolytic
D008534 Megaloblasts Red blood cell precursors, corresponding to ERYTHROBLASTS, that are larger than normal, usually resulting from a FOLIC ACID DEFICIENCY or VITAMIN B 12 DEFICIENCY. Megaloblast
D004900 Erythroblasts Immature, nucleated ERYTHROCYTES occupying the stage of ERYTHROPOIESIS that follows formation of ERYTHROID PRECURSOR CELLS and precedes formation of RETICULOCYTES. The normal series is called normoblasts. Cells called MEGALOBLASTS are a pathologic series of erythroblasts. Erythrocytes, Nucleated,Normoblasts,Proerythroblasts,Pronormoblasts,Erythroblast,Erythrocyte, Nucleated,Normoblast,Nucleated Erythrocyte,Nucleated Erythrocytes,Proerythroblast,Pronormoblast
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000742 Anemia, Dyserythropoietic, Congenital A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test. Dyserythropoietic Anemia, Congenital,HEMPAS,Anemia With Multinucleated Erythroblasts,Anemia, Congenital Dyserythropoietic,Anemia, Congenital Dyserythropoietic, Type II,Anemia, Dyserythropoietic Congenital, Type I,Anemia, Dyserythropoietic Congenital, Type II,Anemia, Dyserythropoietic Congenital, Type III,Anemia, Dyserythropoietic, Congenital Type 1,Anemia, Dyserythropoietic, Congenital Type 2,Anemia, Dyserythropoietic, Congenital, Type I,Anemia, Dyserythropoietic, Congenital, Type II,Anemia, Dyserythropoietic, Congenital, Type III,Congenital Dyserythropoietic Anemia,Congenital Dyserythropoietic Anemia Type 1,Congenital Dyserythropoietic Anemia Type II,Congenital Dyserythropoietic Anemia, Type I,Congenital Dyserythropoietic Anemia, Type III,Dyserythropoietic Anemia, Congenital Type 1,Dyserythropoietic Anemia, Congenital Type 2,Dyserythropoietic Anemia, Congenital, Type I,Dyserythropoietic Anemia, Congenital, Type II,Dyserythropoietic Anemia, Congenital, Type III,Dyserythropoietic Anemia, HEMPAS Type,HEMPAS Anemia,Hereditary Erythroblast Multinuclearity with Positive Acidified Serum,Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test,Type I Congenital Dyserythropoietic Anemia,Anemias, Congenital Dyserythropoietic,Congenital Dyserythropoietic Anemias,Dyserythropoietic Anemias, Congenital,HEMPAS Anemias
D000745 Anemia, Hemolytic, Congenital Hemolytic anemia due to various intrinsic defects of the erythrocyte. Anemia, Hemolytic, Hereditary,Congenital Hemolytic Anemia,Hemolytic Anemia, Congenital,Hemolytic Anemia, Hereditary,Hereditary Hemolytic Anemia,Anemia, Congenital Hemolytic,Anemia, Hereditary Hemolytic,Anemias, Congenital Hemolytic,Anemias, Hereditary Hemolytic,Congenital Hemolytic Anemias,Hemolytic Anemias, Congenital,Hemolytic Anemias, Hereditary,Hereditary Hemolytic Anemias
D013163 Splenomegaly Enlargement of the spleen. Enlarged Spleen,Spleen, Enlarged

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