Rare case with megaloblastic anaemia.
نویسندگان
چکیده
A nine years old boy presented with history of pallor and anaemia since early infancy along with neural hearing loss responding to empirical multivitamin and folic acid therapy started on basis of blood complete picture showing anaemia and megaloblastic anaemia. On investigation he was diagnosed with Thiamine Responsive Megaloblastic Anaemia, a very rare condition in our settings.
منابع مشابه
A rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport.
A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.
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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...
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It has been shown that the incidence of megaloblastic anaemia in a group of 463 randomly selected pregnant women receiving iron was 12 times as high as in a control group of 235 pregnant women receiving iron and folic acid. The incidence of all types of anaemia in the women receiving iron alone was more than three times the incidence in those having iron and folic acid. Some women who were not ...
متن کاملDoes Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?
Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-mo...
متن کاملMegaloblastic Anaemia in Premature Infants.
The common anaemia in premature infants is iron deficiency anaemia, but megaloblastic anaemia can also occur and here we report three such cases. Our interest in megaloblastic anaemia was stimulated by a recent case in which megaloblastic anaemia developed when a low phenylalanine diet was being given for treatment of phenylketonuria (Royston and Parry, 1962). In the discussion of this paper Ro...
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ورودعنوان ژورنال:
- Journal of Ayub Medical College, Abbottabad : JAMC
دوره 26 1 شماره
صفحات -
تاریخ انتشار 2014