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Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I
Author(s) -
Shalev Hanna,
AlAthamen Kaid,
Levi Itai,
Levitas Aviva,
Tamary Hannah
Publication year - 2017
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12778
Subject(s) - medicine , splenectomy , ineffective erythropoiesis , anemia , sepsis , gastroenterology , macrocytic anemia , surgery , thalassemia , blood transfusion , erythropoiesis , pediatrics , spleen
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 CDAN 1 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.