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Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38
  1. Wai-shan Wong1,
  2. Hung-fan Wong1,
  3. Chi-keung Cheng2,
  4. Kai-on Chang3,
  5. Natalie Pui-ha Chan2,
  6. Margaret Heung-ling Ng2,
  7. Kit-fai Wong1
  1. 1Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong
  2. 2Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, New Territories, Hong Kong
  3. 3Department of Paediatrics and Adolescences, Queen Elizabeth Hospital, Kowloon, Hong Kong
  1. Correspondence to Dr Kit-fai Wong, Department of Pathology, Queen Elizabeth Hospital, 30 Gascoigne Road, Kowloon, Hong Kong; kfwong{at}ha.org.hk

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Introduction

Hypochromic microcytic anaemia is not an infrequent haematological problem in infants. There are a number of differential diagnoses including iron deficiency, haemoglobinopathy, chronic inflammation, lead poisoning or rare genetic diseases like congenital sideroblastic anaemia.1 ,2 The onset and severity of anaemia, transfusion requirement, family history together with simple laboratory tests like blood film examination, reticulocyte count, iron profile and haemoglobin pattern studies are able to solve the majority of the diagnostic problems. Bone marrow study is seldom indicated except when congenital sideroblastic anaemia or haematological malignancy is suspected.

Congenital sideroblastic anaemia is a rare cause of inheritable anaemia and is associated with heterogeneous genetic abnormalities and phenotypes. Perls’ staining of a marrow smear can reveal the presence of ring sideroblasts, characterised by abnormal iron deposition in the mitochondria clustering around the nuclei of the erythroblasts, and ring sideroblasts are the pathological hallmarks of the disease. Molecular study has an important role in confirmation of the diagnosis. We hereby report a case of non-syndromic congenital sideroblastic anaemia in a girl who presented with severe hypochromic microcytic anaemia requiring regular blood transfusion at infancy.

Case report

A 4-month-old Nepalese girl presented with failure to thrive, and the peripheral blood examination showed: haemoglobin 1.6 g/dL, mean cell volume (MCV) 68.0 fL, mean cell haemoglobin (MCH) 20.9 pg, red cell distribution width 31.6, reticulocytes 7.2×109/L, white cells 3.3×109/L and platelets 77×109/L. She was afebrile and no lymphoadenopathy or hepatosplenomegaly was detected. Peripheral blood film showed a dimorphic blood picture (figure 1) and occasional red cells with basophilic stippling were noted. There was no polychromasia or poikilocytosis such as blister cells, microspherocytes or schistocytes. There was no biochemical evidence of haemolysis and the bilirubin level was normal. The ferritin level was increased (1427 pmol/L, normal range 81–793). Haemoglobin pattern study showed a normal …

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