title: Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.
abstract: 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.
authors.affiliation: Pediatric Division, Soroka University Medical Center, Beer Sheva, Israel.
authors.forename: Hanna
authors.initials: H
authors.lastname: Shalev
authors.affiliation: Hematology Department Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel.
authors.forename: Kaid
authors.initials: K
authors.lastname: Al-Athamen
authors.affiliation: Hematology Department Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel.
authors.forename: Itai
authors.initials: I
authors.lastname: Levi
authors.affiliation: Pediatric Cardiology Unit, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of Negev, Beer-Sheva, Israel.
authors.forename: Aviva
authors.initials: A
authors.lastname: Levitas
authors.affiliation: Hematology Unit, Schneider Children's Medical Center of Israel, Petach Tikva; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality / Q000628:therapy; D015415:Biomarkers; D003131:Combined Modality Therapy; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009017:Morbidity; D009026:Mortality; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D015415:Biomarkers
keywords: congenital dyserythropoietic anemia; ineffective erythropoiesis; iron overload