Congenital dyserythropoietic anemia | |
---|---|
Other names | CDA [1] |
![]() | |
CDA causes decrease in red blood cells. | |
Specialty | Hematology ![]() |
Symptoms | Weakness [2] |
Types | CDA type I, CDA type II, CDA type III, and CDA type IV [1] |
Diagnostic method | Genetic testing [3] |
Treatment | Blood transfusions (also depends on which type) [4] |
![]() | This article needs more reliable medical references for verification or relies too heavily on primary sources .(October 2025) |
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. [2] CDA may be transmitted by both parents autosomal recessively or dominantly.[ citation needed ]
Congenital dyserythropoietic anemia has four different subtypes, CDA type I, CDA type II, CDA type III, and CDA type IV. CDA type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias.[ citation needed ]
Type | Symptoms | Bone marrow morphology | OMIM | Gene | Locus | |
---|---|---|---|---|---|---|
Type I (CDAN1) | Moderate to severe macrocytic anemia (commonly in neonates as intrauterine growth retardation). [5] | Erythroid precursors with incompletely divided erythroid cells held together with thin chromatin bridges. [6] | Ia | 224120 | CDAN1 | 15q15 |
Ib | 615631 | C15ORF41 | 15q14 | |||
Type II (CDAN2) | Moderate anemia, splenomegaly, and hepatomegaly. [7] | Binucleate and rare multinucleate polychromatic erythroblasts. [6] | 224100 | SEC23B | 20p11.2 | |
Type III (CDAN3) | Mild anemia and retinal degeneration. [7] | Giant multinucleated erythroblasts. [6] | 105600 | KIF23 | 15q21 | |
Type IV (CDAN4) | Severe anemia at birth. [8] [9] | 613673 | KLF1 | 19p13.13-p13.12 |
The symptoms and signs of congenital dyserythropoietic anemia are consistent with: [2]
The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the entire coding region, types I, [10] II, [11] III [12] and IV (a relatively new form of CDA; just four cases have been reported[ when? ] [9] ) according to the genetic testing registry.[ citation needed ]
Treatment of individuals with CDA usually consist of frequent blood transfusions, but this can vary depending on the type that the individual has. [4] Patients report going every 2–3 weeks for blood transfusions.[ citation needed ]
In addition, they must undertake chelation therapy to survive; [13] either deferoxamine, deferasirox, or deferiprone to eliminate the excess iron that accumulates. [14] Removal of the spleen [15] and gallbladder [16] are common. Hemoglobin levels can run anywhere between 8.0 g/dl and 11.0 g/dl in untransfused patients, the amount of blood received by the patient is not as important as their baseline pre-transfusion hemoglobin level. [17] This is true for ferritin levels and iron levels in the organs as well, it is important for patients to go regularly for transfusions in order to maximize good health, normal ferritin levels run anywhere between 24 and 336 ng/ml, [18] hematologists generally do not begin chelation therapy until ferritin levels reach at least 1000 ng/ml. [19] It is more important to check iron levels in the organs through MRI scans, however, than to simply get regular blood tests to check ferritin levels, which only show a trend, and do not reflect actual organ iron content. [14]