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.
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.
Kongenital dyserytropoetisk anemi — Anemi, dyserytropoietisk, medfödd
Anemia, Congenital Dyserythropoietic — Anemias, Congenital Dyserythropoietic — Congenital Dyserythropoietic Anemias — Dyserythropoietic Anemias, Congenital — Congenital Dyserythropoietic Anemia — Dyserythropoietic Anemia, Congenital — Anemia, Dyserythropoietic, Congenital, Type II — HEMPAS — Anemia, Congenital Dyserythropoietic, Type II — Congenital Dyserythropoietic Anemia Type II — Hereditary Erythroblast Multinuclearity with Positive Acidified Serum — HEMPAS Anemia — HEMPAS Anemias — Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test — Dyserythropoietic Anemia, Congenital, Type II — Anemia, Dyserythropoietic Congenital, Type II — Dyserythropoietic Anemia, Congenital Type 2 — Anemia, Dyserythropoietic, Congenital Type 2 — Dyserythropoietic Anemia, HEMPAS Type — Anemia, Dyserythropoietic, Congenital, Type I — Congenital Dyserythropoietic Anemia, Type I — Anemia, Dyserythropoietic Congenital, Type I — Dyserythropoietic Anemia, Congenital, Type I — Dyserythropoietic Anemia, Congenital Type 1 — Anemia, Dyserythropoietic, Congenital Type 1 — Congenital Dyserythropoietic Anemia Type 1 — Type I Congenital Dyserythropoietic Anemia — Anemia, Dyserythropoietic, Congenital, Type III — Congenital Dyserythropoietic Anemia, Type III — Anemia With Multinucleated Erythroblasts — Anemia, Dyserythropoietic Congenital, Type III — Dyserythropoietic Anemia, Congenital, Type III