Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I

Hanna Shalev, Kaid Al-Athamen, Itai Levi, Aviva Levitas, Hannah Tamary

    Research output: Contribution to journalArticlepeer-review

    15 Scopus citations


    Congenital dyserythropoietic anemia type I (CDAI) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. To better define the natural history of the disease among adult patients, we studied 32 Bedouin patients (median age 34 yr; range 21–60) all carrying the same CDAN1 founder mutation. Follow-up studies included complete blood count, blood chemistry, abdominal ultrasound, echocardiography, and T2*MRI. Main complications were due to anemia and ineffective erythropoiesis [osteoporosis (8/9, 89%), cholelithiasis (21/30, 70%), pulmonary arterial hypertension (PAH) (6/25, 24%)] and iron overload [hypothyroidism (9/24, 38%), and diabetes mellitus (6/32, 19%)]. T2* MRI revealed increased liver iron but no cardiac iron (13/13). Anemia improved in the majority of patients who underwent splenectomy (5/6). Three patients died (9%) at the age of 46–56 due to PAH (1) and sepsis (2). All previously underwent splenectomy. Analyzing both our patients and the 21 patients previously described by Heimpel et al. (Blood 107:334, 2006), we conclude that adults with CDA I suffer significant morbidity and mortality. Careful monitoring of iron overload and prompt iron chelation therapy is mandatory. Due to possible complications and inconsistent response to splenectomy α-interferon, transfusion therapy or stem cell transplantation should be considered as alternatives to this procedure in severely affected patients.

    Original languageEnglish
    Pages (from-to)13-18
    Number of pages6
    JournalEuropean Journal of Haematology
    Issue number1
    StatePublished - 1 Jan 2017


    • congenital dyserythropoietic anemia
    • ineffective erythropoiesis
    • iron overload

    ASJC Scopus subject areas

    • Hematology


    Dive into the research topics of 'Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I'. Together they form a unique fingerprint.

    Cite this