A challenging case of beta-thalassemia major with increased ring sideroblasts in bone marrow | [Journal of Haematology and Stem Cell Research • 2023]

Author(s):

1. Maha Tariq: Department, Pakistan Institute of Medical Sciences, Islamabad, Pakistan

2. Sundas Ali: Department, Pakistan Institute of Medical Sciences, Islamabad, Pakistan

3. Farah Hanif: Department, Pakistan Institute of Medical Sciences, Islamabad, Pakistan

4. Rabiah Asghar: Pathology Department, Islamabad Medical and Dental College, Islamabad, Pakistan

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.

Page(s): 52-54

DOI: DOI not available

Published: Journal: Journal of Haematology and Stem Cell Research, Volume: 3, Issue: 1, Year: 2023

Keywords:

Sideroblastic anemia , betathalassemia disease , Thalassemia distribution

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