罕见α-珠蛋白基因突变联合东南亚缺失导致非缺失型Hb H病OA

Objective:To analyze the mutation types of non-deletional hemoglobin H(Hb H)disease,explore the correlation between distinct genotypes and clinical phenotypes,and identify rare α-globin gene mutations,so as to provide evidence for clinical diagnosis and treatment,genetic counseling,and prenatal diagnosis.Methods:Routine blood tests[hemoglobin(Hb),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC)]and Hb H analysis were performed on patients diagnosed and treated for α-thalassemia at the First Affiliated Hospital of Guangxi Medical University from January 2024 to January 2026.Gap-polymerase chain reaction(gap-PCR),fluorescence-based PCR melting curve assay(FCMA)and DNA sequencing were used for genetic analysis of thalassemia.Results:Among 217 patients with non-deletional Hb H disease,187 patients were identified as Hb H-CS(--SEA/αCS α)and 27 patients as Hb H-QS(--SEA/αQS α),and 3 patients carried rare gene mutations causing Hb H disease,including one case each of--SEA/αATG＞GTG α,--SEA/αCD90-92(-AGCTTCGG)α and--SEA/αCD30(-GAG)α.None of the patients were complicated with β-thalassemia.The results of routine blood tests showed that mild,moderate and severe anemia in the Hb H-CS group accounted for 22.99%,64.71%and 12.30%,respectively;the corresponding proportions of mild,moderate and severe anemia in the Hb H-QS group accounted for 44.45%,51.85%and 3.70%,respectively.The Hb levels were 107.30 g/L for the--SEA/αATG＞GTGα genotype,88.40 g/L for the--SEA/αCD90-92(-AGCTTCGG)α genotype,and 73.70 g/L for the--SEA/αCD30(-GAG)α genotype,all accompanied by decreased MCV and MCH.Hb analysis revealed that the Hb H level was 13.60%(10.45%-15.90%)in the Hb H-CS group and 23.20%(17.30%-25.00%)in the Hb H-QS group,with a statisti-cally significant difference between the two groups(P＜0.05).The Hb H levels of the--SEA/αATG＞GTG α,--SEA/αCD90-92(-AGCTTCGG)α and--SEA/αCD30(-GAG)α genotypes were 25.30%,24.40%and 20.40%,respectively.Conclusion:The predominant genotype of non-deletional Hb H disease is--SEA/αCSα,followed by--SEA/αQSα.Moderate anemia is the main clinical manifestation of non-deletional Hb H disease.The Hb H level in the Hb H-QS group is higher than that in the Hb H-CS group.Three cases of Hb H disease with genotypes of--SEA/αATG＞GTG α,--SEA/αCD90-92(-AGCTTCGG)α and--SEA/αCD30(-GAG)α are identified,presenting with mild to moderate anemia.