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Microcytic Anemia and a Delayed Need for Transfusion in a Case of Diamond-Blackfan Anemia with Concomitant Thalassemia
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  • Meiling Liao,
  • Xianmin Guan,
  • Haiyan Liu,
  • Jiebin Qin,
  • Xianhao Wen
Meiling Liao
Chongqing Medical University Affiliated Children's Hospital
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Xianmin Guan
Chongqing Medical University Affiliated Children's Hospital
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Haiyan Liu
Chongqing Medical University Affiliated Children's Hospital
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Jiebin Qin
Chongqing Medical University Affiliated Children's Hospital
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Xianhao Wen
Chongqing Medical University Affiliated Children's Hospital

Corresponding Author:[email protected]

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Abstract

Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia. Classical anemia is a normochromic or macrocytic anemia with reticulocytopenia. Patients with DBA are usually diagnosed and receive transfusion in the first year. We report a patient who presented with microcytic anemia and congenital malformations. The patient suffered a sudden aggravation of disease during adolescence and received first transfusion at 13 years of age. Exome sequencing eventually led to a diagnosis of DBA with a mutated RPL5 gene. In conclusion, this case demonstrates a confused manifestation of non-classical DBA and sudden aggravation of disease in natural course of DBA.