Congenital dyserythropoietic anemia type II
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| Congenital dyserythropoietic anemia type II | |
|---|---|
| Synonyms | HEMPAS (Hereditary erythroblastic multinuclearity with positive acidified serum test) |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Anemia, jaundice, splenomegaly, gallstones |
| Complications | Iron overload, gallstones |
| Onset | Childhood |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation in the SEC23B gene |
| Risks | |
| Diagnosis | Blood test, bone marrow biopsy, genetic testing |
| Differential diagnosis | Other types of congenital dyserythropoietic anemia, hereditary spherocytosis |
| Prevention | N/A |
| Treatment | Blood transfusion, iron chelation therapy, splenectomy |
| Medication | |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | |
- Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with positive acidified serum lysis test (HEMPAS) is a rare genetic anemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test.
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