Case report of thalassemia intermedia genotypes and literatures review

Abstract

Objective To inquire the effective diagnosis process on Thalassemia intermedia. Methods Two cases of Thalassemia Intermedia reported by Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University at March 15th, 2012 and April 29th, 2013 were reviewed. The clinical manifestations, diagnosis methods and treatments were analyzed and summarized. The study protocol was approved by the Ethical Review Board of Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University. Informed consent was obtained from the parents of those children. Admission examination and gene mutation detection of globin were performed for 2 children. Results Case 1, a 3-year-old girl, presented pallor for more than 2 years and progressively enlarged abdominal mass for more than 1 year. She was confirmed as heterozygosis for β-globin mutation with α-globin gene triplication by PCR and DNA sequencing. Case 2, a 5-year-old boy, presenting pallor for 4 years, was diagnosed as the HbH-CS disease by the combination of capillary electrophoresis and genetic screening. Conclusions When it comes to thalassemia intermedia, gene mutations that change the clinical manifestations should be considered. Appropriate access to the capillary electrophoresis and the gene diagnostic techniques do great help to the confirmation of thalassemia intermedia. Key words: Thalassemia; α-globin gene triplication; Hb H-CS disease; Hemoglobin electrophoresis; Electrophoresis, capillary