Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin
نویسندگان
چکیده مقاله:
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.
منابع مشابه
Delta beta thalassemia: a rare hemoglobin variant
Abbreviations: CBC, complete blood count; Hb, hemoglobin; HPLC, high-performance liquid chromatography. 2011;26:162-5. 7. Cho HY, Lee BS, Moon KC, Ha IS, Cheong HI, Choi Y. Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate. Pediatr Nephrol 2007;22:874-80. 8. Frémeaux-Bacchi V, Miller EC, Liszewski MK, et al. Mutations in complement C3 predispose to developm...
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عنوان ژورنال
دوره 3 شماره 1
صفحات 46- 41
تاریخ انتشار 2013-03
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