Article
Co-inheritance of compound heterozygous Hb Constant Spring and a single -alpha(3.7) gene deletion with heterozygous deltabeta thalassaemia: a diagnostic challenge.
The Malaysian journal of pathology - 1 Jun 2012
Azma Raja Zahratul, Othman Ainoon, Azman Norazlina, Alauddin Hafiza, Ithnin Azlin, Yusof Nurasyikin, Razak Noor Farisah, Sardi Nor Hidayati, Hussin Noor Hamidah
Abstract excerpt
Haemoglobin Constant Spring (Hb CS) mutation and single gene deletions are common underlying genetic abnormalities for alpha thalassaemias. Co-inheritance of deletional and non-deletional alpha (alpha) thalassaemias may result in various thalassaemia syndromes. Concomitant co-inheritance with beta (beta) and delta (delta) gene abnormalities would result in improved clinical phenotype. We report here a 33-year-old...
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