Sideroblastic anemia

A Shrestha,P Bhandari,R Hamal

doi:10.3126/jpn.v6i11.15695

A Shrestha, P Bhandari + Show 1 more

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https://doi.org/10.3126/jpn.v6i11.15695

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Abstract

Sideroblastic anemias are a heterogenous group of disorders that have as a common feature with the presence of ringed sideroblasts in the marrow. We present a case of young female, nursing student who presented with increasing palpitation, fatigue and exertional shortness of breath for the last one year. She had a low hemoglobin and high serum iron. Anemia with iron overload prompted us to do bone marrow study and there were 19% ringed sideroblasts and iron overload fulfilling the diagnosis of sideroblastic anemia. We searched for secondary causes of ringed sideroblast but could not find any culprit. Her cytogenetics report was normal and genetic analysis was not done due to financial reason. Since the diagnosis 3 months back, patient is on pyridoxine, folic acid, deferasirox and still needs regular blood transfusion suggesting that she may be pyridoxine refractory and may develop iron overload.

Highlights

Sideroblastic anemia is a refractory anemia defined by the presence of many pathological ringed sideroblasts in the bone marrow
Cooley reported the first family with X-linked hypochromic microcytic anemia in 1945.3 After several case reports, the term sideroblastic anemia was adopted
The sideroblastic anemias are characterized by ineffective erythropoiesis, like other erythroid disorders with defective cytoplasmic or nuclear maturation

Summary

INTRODUCTION

Sideroblastic anemia is a refractory anemia defined by the presence of many pathological ringed sideroblasts in the bone marrow. Eighteen years-old female presented to us with abnormal feeling of her heart beat which increased on exertion for the last one year. There was no history of exposure to any drug, alcohol, smoking or heavy metal She is nonvegetarian by diet with normal dietary pattern. Rest of her cardiac evaluation including ECG and echo were normal She was referred to a physician for further evaluation which revealed high serum iron. Peripheral blood smear showed microcytic hypochromic picture (fig.[1]) Her LDH was 520 U/L, uric acid-152 μmol/L and erythropoietin level was 171 Miu/ mL.

DISCUSSION

CONCLUSION