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KMID : 0387820220290020065
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Clinical Pediatric Hematology-Oncology
2022 Volume.29 No. 2 p.65 ~ p.69
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Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis
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Muhammad Matloob Alam
Abdulrhman Alathaibi
Ruwayd Adel Attar
Muhammad Kashif
Hamdan Saeed Al-Ghamdi
Sultan Abdulaziz Alharthi
Abdulmohsen Bokhary
Muteb Althomali
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Abstract
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We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of se-vere anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe microcytic/hypochromic anemia she received multiple packed RBCs transfusions. She subsequently developed hepatomegaly, hypothyroidism, diabetes, liver cirrhosis and latterly, a severe cardiomyopathy due to significant iron overload refractory to regular chelating agents. Genetic study was offered, confirmed the pres-ence of SLC25A38 gene mutation and her diagnosis was revised to pyridoxine re-fractory sideroblastic anemia (PRSA). It is a non-syndromic, autosomal recessive dis-order, characterized by severe microcytic anemia since infancy and increased serum ferritin, which is not responsive to pyridoxine. Since the clinical course of this dis-order is very similar to that of thalassemia major and other red cell aplasia. Prompt recognition and initiation of appropriate treatment are important to reduce the de-velopment of secondary disease complications due to iron overload. Given the poten-tial for misdiagnosis and delay in the recognition of sideroblastic anemia, a careful bone marrow examination and genetic study should be included while investigating children with unexplained anemia.
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KEYWORD
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SLC25A38 gene mutation, Anemia, Microcytic/hypochromic, Sideroblastic anemia, Iron overload
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