Article
β-Thalassemia Intermedia Caused by Compound Heterozygosity for Hb Lepore-Hollandia and β-Thalassemia is Rare in the Indian Population.
Hemoglobin - 1 Jan 2015
Sreedharanunni Sreejesh, Chhabra Sanjeev, Hira Jasbir Kaur, Bansal Deepak, Sharma Prashant, Das Reena
Abstract excerpt
Compound heterozygosity for one of the Hb Lepore mutations and β-thalassemia (β-thal) is a rare cause of non transfusion-dependent thalassemia. We report a 4-year-old boy who presented clinically as homozygous/compound heterozygous β-thal intermedia (β-TI), an impression that was corroborated by the initial hemoglobin (Hb) high performance liquid chromatography (HPLC). However, the correct diagnosis of a rare...
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