ABSTRACT
OBJECTIVES: Congenital dyserythropoietic anemia (CDA) type I is a rare autosomal recessive macrocytic anemia whose natural history is not well documented. The aim of the present study was to evaluate the clinical picture of the disease in young adults. METHODS: The study sample consisted of 17 patients of mean age 11.9 +/- 5.4 yr (range 18-33 yr) and one older patient (age 44 yr), all Israeli Bedouins. The degree of anemia was evaluated as well as the extent of development of gallstones and iron overload. In each subject we determined the hemochromatosis gene mutations and the uridine dyphosphate-glucoronosyltransferase (UGT-1A) gene polymorphism associated with Gilbert's syndrome. RESULTS: The patients were found to have moderate anemia, with the women displaying lower mean hemoglobin levels than the men (8.2 +/- 0.9 g dL(-1) vs. 10 +/- 1.3 g dL(-1); P=0.0059). The majority of patients (59%) had received at least one blood transfusion, with the women having a significantly higher transfusion requirement. Although delayed puberty was noted, final height and weight were within normal limits, and eight patients had progeny. Biliary stones were found in three of 16 patients, two of whom were homozygous for UGT-1A gene polymorphism. None of the patients carried the common hemochromatosis gene mutation, although serum ferritin levels were moderately elevated (788 +/- 332 ng mL(-1)). CONCLUSIONS: CDA type I in young adults is characterized by moderate macrocytic anemia, more severe in women, and a tendency to cholelithiasis and secondary progressive iron overload. We suggest that iron overload in this patient population should be monitored and chelation therapy initiated when indicated to prevent organ damage
Subject(s)
Anemia, Dyserythropoietic, Congenital/diagnosis , Adolescent , Adult , Age Factors , Anemia, Dyserythropoietic, Congenital/complications , Anemia, Dyserythropoietic, Congenital/genetics , Arabs , Bilirubin/blood , Blood Transfusion , Cholelithiasis/complications , Cholelithiasis/genetics , Female , Ferritins/blood , Gilbert Disease/genetics , Glucuronosyltransferase/genetics , Hemochromatosis/genetics , Hemoglobins/analysis , Hepatomegaly , Homozygote , Humans , Israel , Male , Mutation , Polymorphism, Genetic , Pregnancy , Puberty , Sex Characteristics , SplenomegalyABSTRACT
The anomalous origin of a coronary artery often poses diagnostic difficulties at angiography. The right coronary artery is more rarely affected than the left. A patient is presented in whom the right coronary artery arose from the ascending aorta. The diagnosis of this rare anomaly was facilitated by the use of digital subtraction aortography and allowed selective angiography of the artery with an appropriately shaped catheter.
