Benign congenital erythropenia.
Normochromic anaemia was diagnosed in two brothers in early infancy. At the time of this report they were aged 10 (M.H.) and 12 (T.H.) years. A defect of the atrial septum was found in both patients. They had slight skeletal malformations. Their haemoglobin values have remained constantly at the level of about 100 g/l and the RBC count at about 3.5 x 10(12)/l. At repeated examinations, both the patients and their parents had low or borderline low erythrocyte enolase levels. Erythropoietin levels were normal and so were numerous other laboratory tests, including analysis for abnormal haemoglobins. The condition could represent a mild form of chronic congenital hypoplastic anaemia.
D000015:Abnormalities, Multiple / Q000235:genetics; D000740:Anemia / Q000151:congenital* / Q000235:genetics; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D008297:Male; D010751:Phosphopyruvate Hydratase / Q000097:blood
D010751:Phosphopyruvate Hydratase