Anemia, Dyserythropoietic, Congenital

Medfödd dyserytropoietisk anemi

Svensk definition

Ett ärftligt sjukdomstillstånd, kännetecknat av multinukleära erytroblaster, karyorrexi, asynkron mognad hos cellkärna och cytoplasma, samt olika nukleära abnormaliteter i benmärgens erytrocytprekurso rceller. Typ II är den vanligaste av de tre förekommande typerna och benämns ofta HEMPAS, efter det test som används vid diagnosen.

Engelsk definition

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.

Svenska synonymer

Kongenital dyserytropoetisk anemi Anemi, dyserytropoietisk, medfödd

Engelska synonymer

Congenital Dyserythropoietic Anemia Dyserythropoietic Anemia, Congenital Anemia, Congenital Dyserythropoietic Anemias, Congenital Dyserythropoietic Congenital Dyserythropoietic Anemias Dyserythropoietic Anemias, Congenital Anemia, Dyserythropoietic, Congenital, Type II Anemia, Dyserythropoietic, Congenital Type 2 Congenital Dyserythropoietic Anemia Type II Dyserythropoietic Anemia, Congenital Type 2 Dyserythropoietic Anemia, Congenital, Type II HEMPAS HEMPAS Anemia HEMPAS Anemias Hereditary Erythroblast Multinuclearity with Positive Acidified Serum Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test Anemia, Dyserythropoietic Congenital, Type II Anemia, Congenital Dyserythropoietic, Type II Dyserythropoietic Anemia, HEMPAS Type Anemia, Dyserythropoietic, Congenital, Type III Dyserythropoietic Anemia, Congenital, Type III Congenital Dyserythropoietic Anemia, Type III Anemia With Multinucleated Erythroblasts Anemia, Dyserythropoietic Congenital, Type III Anemia, Dyserythropoietic, Congenital, Type I Anemia, Dyserythropoietic, Congenital Type 1 Type I Congenital Dyserythropoietic Anemia Congenital Dyserythropoietic Anemia, Type I Dyserythropoietic Anemia, Congenital Type 1 Dyserythropoietic Anemia, Congenital, Type I Anemia, Dyserythropoietic Congenital, Type I Congenital Dyserythropoietic Anemia Type 1