CDA Type IV (KLF1 gene) | Autosomal dominant inheritance |
| Normochromic, normocytic anemia of variable degree; hydrops fetalis, intrauterine transfusions, splenomegaly |
| Elevated levels of hemoglobin F (> 30%) |
| Hypercellular marrow, dysplastic changes in erythroblasts |
| Electron microscopy: atypical cytoplasmic inclusions, enlarged nuclear pores, invagination of nuclear membrane |
XLTDA (GATA1 gene) | X-linked inheritance |
| Macrothrombocytopenia with hypogranulated platelets, bleeding tendency |
| Anemia of variable degree, ranging from hydrops fetalis and transfusion-dependency to dyserythropoiesis without anemia |
| Bone marrow: megakaryocytes decreased in number, absence of platelet membrane demarcation, presence of cytoplasmic vacuoles |
Majeed syndrome (LPIN2 gene) | Autosomal recessive inheritance |
| Chronic recurrent multifocal osteomyelitis, inflammatory dermatosis |
| Microcytic anemia |
| Bone marrow: dyserythropoiesis, erythroid hyperplasia, up to 25% bi- and tri-nucleated erythroblasts |
CDA due to mutations in COX4I2 gene | Exocrine pancreatic insufficiency and calvarial hyperostosis |
| Blood smear: anisopoikilocytosis, basophilic stippling, and few normoblasts |
| Bone marrow: erythroid hyperplasia, megaloblastic changes, bi- and multinucleated erythroblasts |
CDA and mevalonate kinase deficiency (MVK gene) | Severe anemia; recurrent episodes of fever, rash, cervical adenitis, and abdominal pain |
| Mildly dysmorphic facial features, including down-slanted palpebral fissures, hypertelorism, and frontal bossing |
| Bone marrow: hypercellular with 6% to 8% of erythroid precursors exhibiting dyserythropoiesis, including forms of irregular nuclei, nuclear budding, binucleation, and karyorrhexis |