Hereditary spherocytosis combined with glucose-6-phosphate dehydrogenase deficiency in a Chinese family

Objectives: We analyzed gene mutations in a Chinese family with hereditary spherocytosis (HS) combined with glucose-6-phosphate dehydrogenase (G6PD) deficiency, and evaluated differences in clinical features and diagnose the comorbidities. Methods: G6PD mutations were identified using PCR with fluorescence melting curve analysis. Erythrocyte membrane-protein defects were detected through sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) experiments and Western blot analysis. Genetic mutations were analyzed using DNA sequencing. Results: Findings from PCR with fluorescence melting curve analysis revealed a 1388G>A mutation in the G6PD gene in the proband and his mother. The proband exhibited band 3 protein defects as determined by SDS-PAGE and western blot analysis. Gene sequencing results showed two missense mutations in exon 4 of the SLC4A1 gene; c.113A>C and c.166A>G. The same findings were also found in the proband’s mother, but no mutation was detected in his father. Conclusions: Although the proband and his mother were both diagnosed as carriers of the same mutations, their degree of anemia were different. This suggests that in addition to gene mutations, environmental and other factors play an important role in the clinical manifestation of HS combined with G6PD deficiency. Findings from routine blood tests, morphological changes and gene sequencing are important for determining gene mutations all issues of concern. In addition, cell membrane analysis and a detailed family history should be performed to raise awareness of prenatal tests, diagnosis and treatment of such types of accompanied diseases.