A CHALLENGING CASE OF BETA-THALASSEMIA MAJOR WITH INCREASED RING SIDEROBLASTS IN BONE MARROW

Authors

  • Maha Tariq Hematologist, Pathology Department, Pakistan Institute of Medical Sciences (P.I.M.S), Islamabad, Pakistan
  • Sundas Ali Pakistan Institute of Medical Sciences (P.I.M.S), Islamabad, Pakistan
  • Farah Hanif Assistant Professor, Pathology Department, Pakistan Institute of Medical Sciences (P.I.M.S), Islamabad, Pakistan
  • Rabiah Asghar Assistant Professor, Pathology Department, Islamabad Medical and Dental College, Islamabad

Keywords:

Beta Thalassaemia Major, Ring sideroblasts, bone marrow

Abstract

Symptomatic Beta-thalassemia is one of the most common genetic disorders worldwide. Early clinical manifestations are variable. Routine hematologic analysis is usually sufficient to diagnose the disease, but sometimes diagnosis can be more difficult. We present the case of a 1-year-old male patient who underwent a bone marrow biopsy with clinical signs of inherited bone marrow/erythropoietic failure. Numerous ringed sideroblasts were found in iron-stained smears raising the suspicion of congenital sideroblastic anemia. The child was later genetically diagnosed as beta-thalassemia major.

Author Biography

Sundas Ali, Pakistan Institute of Medical Sciences (P.I.M.S), Islamabad, Pakistan

Hematologist, Pathology Department, Pakistan Institute of Medical Sciences (P.I.M.S), Islamabad, Pakistan

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Published

2023-07-12

Issue

Vol. 3 No. 1 (2023): January - June

Section

Case Report

License

Copyright (c) 2023 Journal of Haematology and Stem Cell Research

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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