Iranian journal of Pediatric Hematology and Oncology
Iranian journal of Pediatric Hematology and Oncology
Iran J Ped Hematol Oncol
Medical Sciences
http://ijpho.ssu.ac.ir
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2008-8892
2228-6993
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jalali
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gregorian
2013
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Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin
قلب
Heart
پژوهشي
Research
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.
Key Words Delta-Beta Thalassemia ;Homozygote; Chromatography, High Pressure Liquid
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http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-1-72&slc_lang=en&sid=1
R
Gupta