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Volume 3, Issue 1 (3-2013)
Iran J Ped Hematol Oncol 2013, 3(1): 46-41 |
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Gupta R, Verma S, Bhargava M, Mittal S. Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin. Iran J Ped Hematol Oncol 2013; 3 (1) :46-41
URL: http://ijpho.ssu.ac.ir/article-1-106-en.html
URL: http://ijpho.ssu.ac.ir/article-1-106-en.html
Abstract: (10300 Views)
Abstract
Background
Delta beta (δβ) thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF). Homozygous patients of this disorder, unlike β-thalassemia, show mild anemia. Only few cases of δβ-thalassemia have been reported from India in the available indexed English literature.
Case presentation
A four-year old male child was evaluated for recent-onset jaundice. Hematological investigations showed mild anemia with microcytic hypochromic red cells. A comprehensive analysis of hemoglobin by high-performance liquid chromatography (HPLC) showed complete absence of HbA and HbA2 with HbF constituting 100% of the hemoglobin. Hemoglobin analysis of both parents showed elevated level of HbF with normal HbA2. A final diagnosis of δβ-thalassemia in the child with both parents being carriers was rendered.
Conclusion
Delta beta-thalassemia is an uncommon cause of markedly elevated fetal hemoglobin beyond fetal period. Clinical and haematological parameters should be evaluated to render an accurate diagnosis.
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