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Aim: The aim of case series is to describe the 3
hemoglobin E ß-thalassemia cases, which are unique and requires special care
and attention to diagnose/manage. Its natural history is little known and also
the reasons for their clinical diversity or/and its management.
Presentation of case: 3 cases of transfusion dependent
hemoglobin E β-thalassemia major were included in the study. The patients
reported similar complaints of weakness and delayed milestones. The patients
were on regular red blood cell transfusion and iron chelation therapy from the
age of 3 years. The beta-globin gene defects were defined in all the cases
using similar techniques. Thalassemia mutation analysis by reverse clot blot
testing showed a compound heterozygous for IVS 1-5 [G-C] and codon 26 [G-A]
beta E mutation in the beta globin gene. Evaluation for iron overload showed
severe cardiac iron deposit and severe hepatic iron deposit on MRI T2. During
hospital stay, the patients received antibiotics and immune-suppressants in
common.
Discussion and conclusion: Patients are treated by lifelong
blood transfusion every 15 to 30 days along with iron chelation therapy.
Repetitive transfusions cause iron overload, with life-threatening
complications, like such as cardiomyopathy, endocrine disorders, liver failures
and ultimately, premature death. Awareness, education and screening play the
most important part in the prevention of life-threatening complications and
control of thalassemia.
Keywords: Hb E/β thalassemia, Transfusion dependent,
Hb E mutation, Thalassemia major
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