Objective To carry out genetic diagnosis in a family coinherited with both hemoglobin variant Hb Rush and beta(0)-thalassemia,and to explore the clinical hematological characteristics of a compound heterozygous status with Hb Rush and beta-thalassemia CD71-72.Methods Hematological indicators of the families were obtained by using routine blood tests and hemoglobin electrophoresis,and PCR-flow hybridization and gene sequencing were used for genetic diagnosis.Results The proband presented severe microcytic hypochromia anemia with absent HbA,abnormal Z8 band,and significantly increased HbF.Compound heterozygotes of Hb Rush and beta(0)thalassemia CD71-72 were confirmed in the family.The clinical phe-notypes of the family members with the same compound mutation were similar to that of the proband,while the family mem-bers who only carry either abnormal hemoglobin Hb Rush or beta-thalassemia CD71-72 heterozygous were asymptomatic or mild anemia.Conclusion Unstable hemoglobin Hb Rush trait usually is asymptomatic,however it co-inheriting with beta(0)-thalassemia can lead to thalassemia major with severe anemia.Our study provides more clinical and genetic details on genotype-phenotype correlation for compound heterozygous status with unstable hemoglobin variant and thalassemia,which provides more references for clinical diagnosis and genetic counseling of hemoglobin disorders.
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