One Case with Hemoglobin H Disease Constant Spring Complicated byβ-thalassemia with Normal Characteristics by High-performance Liquid Chromatography

Objective To report one case with hemoglobin H disease Constant Spring(CS)complicated byβ-thalassemia,who showed fully normal when screened by high-performance liquid chromatography(HPLC).Methods Blood cell analysis and HPLC analysis for thalassemia screening was explored.Three common deletion,d-thalassemia genotype was typed by gap polymerase chain reaction(Gap-PCR).PCR-reverse oligonucleotide probes dot blot hybridization was performed to detect three kinds of common non-deletionα-thalassemia gene and 17 kinds of point mutationβ-thalassemia genes.Results The hemocytes analysis showed decreased hemoglobin concentration and mean corpuscular volume(MCV).No HbH and CS strand was found in HPLC test,the HbF,HbA2 was among the normal range.However,genotype of the patient was proved to be--SEA/αCSλcomplicated byβN/41-42.Conclusion Hemoglobin H disease complicated byβ-thalassemia may be misdiagnosed by thalassemia screening with HPLC analysis.In areas with high prevalence of thalssemia,genotype should be performed in patients with low MCV even in case of negative result of thalassemia screening by HPLC.