| Objective: To study clinical features, explore the relationship betweengene mutation of β-thalassemia major and clinical manifestations throughretrospective analyze. To raise awareness of β-thalassemia major, preventionthe disease by genetic counselling, premarital medical examination andprenatal examination, improve the cure and the quality of life.Methods: Data from101cases diagnosed with β-thalassemia majorduring2010to2012was analyzed retrospectively. The clinical featuresbetween different genotypes were studied comparatively.Results:1. There were62male,39female, and the ratio male to female was1.59:1. The age of patients ranged from2months8days to6year4months,8months old on average.31.68%Patients were less than6months old,33.66%were between6months to1year old,22.77%were between1yearto2years old, and11.88%were more than2years old.2.53Patients from Chongqing,29patients from Sichuan,16patientsfrom Guizhou,1patient from Yunnan,1patient from Hubei,1fromShanxi. 3.72Patients in101cases with respiratory infections,20cases of thedigestive tract infection,39cases with anemia heart disease,1case withautoimmune hemolytic anemia,2cases of roseola infantilis,2cases ofhypersplenia.4.51Cases have a positive family history in101cases,15cases ofparents,6cases of fathers,23cases of mothers,7cases of brothers orsisters.5. All patients in101cases with anemia,81cases with jaundice,70cases with hepatomegaly,89cases with splenomegaly,25cases withunusual facies.6.101Cases were performed blood routine test, collected82recordsat onset time, moderate anemia in28cases(34.2%), severe anemia in48cases(58.5%) and extremely severe anemia in6cases(7.4%). The averageMCV of85patients was (76.81±6.87)fl, and the average MCH was(23.06±2.32)pg, the average MCHC was(299.85±22.77)g/L. The greatmajority of all cases displayed hypochromic microcytic anemia.7.24Cases in101children underwent bone marrow aspiration, theresults showed: hyperplasia of red was active，presented with hemolyticanemia bone marrow.8.10Cases in101cases discovered abnormal slow stripes inhemoglobin electrophoresis,and they proved out to be HbE by geneexamination.82Cases with HbF before blood transfusion rised up. 9. In101cases,82cases took iron metabolism tests, serum iron onaverage was(38.10±15.77)umol/L, total iron binding capacity on averagewas(60.62±13.37)umol/L, transferritin saturation25cases on averagewas(60.15±20.10)%.10. In101Cases,95cases underwent bilirubin test, the results showed86cases were on the rise and indirect bilirubin gave priority to.11. There were10types with22genotypes from101cases, includinghemozygotes β0/β0(27cases), dual heterozygotes β0/β0(17cases), dualheterozygotes β0/β+(36cases), dual heterozygotes β0/βE(5cases),hemozygotes β+/β+(7cases), dual heterozygotes β+/β+(4cases) and dualheterozygotes β+/βE (5cases).12. In101cases,45cases lost to follow-up,7cases passed away,4cases have received stem cell transplantation, two of them have alreadyrecovered to normal, one need to regular blood transfusion,and the otherone’s Hb was about100g/L,3cases didn’t received treatment,1caseunderwent splenectomy, Hb was about70-80g/L,only42patients persistedin blood transfusion.13.15cases insisted in using iron chelators, the serum ferritin of1case was higher after treatment than before,2cases didn’t monitor serumferritin level regularly, SF of12cases went down after treatment, theaverage of serum ferritin decreased (664.2±1036.6) ug/L in6months, anddroped (891.4±1309.2) ug/L after1year’s treatment. 14. In101patients,the main genetic mutations were CD41-42、IVS-2-654、CD17、TATAbox-28and TATAbox-29, CD17/CD17(13cases),CD41-41/CD41-42(13cases),CD17/IVS-2-654(11cases), CD17/CD41-42(14cases), CD41-42/IVS-2-654(17cases). The onset time, red cell count,hemoglobin, bilirubin level and interval tiome of blood transfusion inpatients of genotypes CD17/CD17, CD41-41/CD41-42, CD17/654,CD17/CD41-42, CD41-42/654were the same. The MCV of genotypeCD17/CD17were smaller and the size of the spleens were bigger than theothers.Conclusion:1. The episode age of majority of β-thalassemia major patients wereless than1year old, the main clinical mainfestation were anemia, jaundice,hepatomegaly and splenomegaly. The peripheral hematogram presentedwith hypochromic microcytic anemia, and bone marrow examinationdisplays hemolytic anemia bone marrow feature. HbF rised up in most ofthe patients.2. β-TM is a disease of chronic hemolytic anemia, the majority ofthem may complicated with iron overload,but the minority maycomplicated with iron-deficiency anemia.3. The main genetic mutations were CD41-42,IVS-2-654, CD17,TATAbox-28and TATAbox-29. Genotypes of101patients withβ-thalassemia major were the same with results of other researchers in Chongqing and Sichuan.4. Blood transfusion is an important therapy of β-thalassemia majorpatients, they need blood transfusion every once about20to60days.5. Iron chelators used for reducing iron overload nowadays areDeferoxamine, Deferiprone and Deferasirox, they can effectively lower ironstate of the β-thalassemia major patients.6. High loss to follow up in this study, some of the patients didn’treceive treatment regularly, so management is very improtant for thesepatients. As β-thalassemia major is a autosomal recessive inherited disease,genetic counselling, premarital checkups and prenatal examination are veryimportant in preventing the birth of β-thalassemia major patients andimproving population quality. |
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