The Clinical Characteristics And Hematological Changes Of Hereditary Persistent Fetal Hemoglobin In 20 Cases

Objective:The aim of this study is to evaluate the clinical features and hematological changes of inherited persistent fetal hemoglobin（HPFH）and HPFH composite with thalassemia.It is helpful for deepen understanding for HPFH diagnosis and providing clinical basis for HPFH genetic types by this analysis.Method:A retrospective analysis of thalassemia related cases in the First Affiliated Hospital of Guangxi Medical University during August 2017 to March2018.The collection of cases requires the following:patients were aged more than 2 years old,without obvious clinical symptoms,Hb level was equal or greater than 90g/L,HbF level was equal or greater than2%,and clinical diagnosis was HPFH.For those cases who compounded withβ-thalassemia major,the conditions that Hb was greater than 70g/L and without transfusion treatment history were required.According to the detection result of hemoglobin electrophoresis and thalassaemia gene defects and mutation types,20 cases were divided into three groups for observation and analysis:（1）group 1:cases who were clinically diagnosed as HPFH,no thalassaemia positive evidence were divided into HPFH group;（2）group 2:cases who were clinically diagnosed as HPFH and compound thalassaemia minor were divided into this group;（3）group 3:cases who were clinically diagnosed as HPFH and compoundβ⁰/β⁰ orβ⁰/β⁺thalassaemia were divided into this group.Results1.Analysis of clinical manifestations There were 6 cases in group 1,they showed no obvious clinical manifestations.10 cases in group 2,all of them showed mild anemia or even no anemia symptoms,and no enlargement of liver and spleen.There were 4 cases in group 3,in these group,3 cases showed the characteristics of intermediate thalassemia,including the onset age of 1-4 years old,mild to moderate anemia,and varying degrees of hepatomegaly.One patient showed no anemia,only mild jaundice.2.The analysis of routine blood tests and hemoglobin electrophoresis results group 1 showed that Hb levels ranged from 126g/L to 169g/L,meancorpuscular volume（MCV）ranged from 64fl to 88.4fl,and HbF ranged from 2.4%to 6.4%;In group 2,1 case compound SEA deletionalα-thalassemia showed that Hb level was 121g/L,MCV was 67.4fl,and HbF 1evel was 6.4%;6cases compoundβ-thalassaemia heterozygous,who showed that the Hb 1evel ranged from 97g/L to 108g/L,MCV ranged from 60fl to 72.8fl,and HbF level ranged from 2.4%to 7.2%;3 cases ofαβcompound thalassemia showed that the Hb level ranged from 104 g/L to 118g/L,MCV ranged from 60fl to 65.8 fl,and HbF level ranged from 8%to 18.6%.There were 4 cases in group 3,whose genotypes wereβ^IVS-I-1/β^IVS-I-1,β¹⁷/β^-28,β^41-42/β^41-42,β¹⁷/β^41-42,showed that the Hb1evel ranged from 73.1g/L to 126g/L,MCV ranged from 58.3fl to 76 fl,and HbF 1evel ranged from 86.1%to 97.7%.Conclusion1.HPFH generally showed normal clinical manifestations.Except for the increase of HbF,the hematological parameters such as Hb,MCV,and HbA₂were normal or near normal.2.HPFH compound heterozygous thalassemia showed mild anemia.Hematological changes were consistent with the characteristics of thalassemia minor,but HbF was significantly elevated.3.HPFH compound（β⁰/β⁰）or（β⁰/β⁺）thalassemia showed the characteristics of intermediate thalassemia or even no anemia symptoms.The hematological parameters such as MCV,MCH and HbA2 showed the characteristics ofβthalassemia major,but hemoglobin level was significantly elevated.