Megaloblastic anaemia, diabetes and deafness in a 2-year-old child.
نویسندگان
چکیده
Her haemoglobin concentration was 5.4 g/dl, the mean cell volume 101 fl, and the corrected reticulocyte count 1.4%. There were oval macrocytes on the blood smear. Red cell folate and serum vitamin B12 levels were normal. Her bone marrow aspirate was hypercellular with predominantly erythroid hyperplasia and trilineage megaloblastic dysplasia. An iron stain showed numerous ringed sideroblasts (20%).
منابع مشابه
Does Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?
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Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading...
متن کاملیک مورد آنمی مگالوبلاستیک مقاوم پاسخ دهنده به تیامین
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ورودعنوان ژورنال:
- South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
دوره 95 9 شماره
صفحات -
تاریخ انتشار 2005