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《Journal of Applied Clinical Pediatrics》 2009-15
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Etiology Analysis of Microcytosis and Hypochromia Group in Guilin City

ZHU Chun-jiang1,DING Hui2,LAO Yi-ping3,PENG De-zhen4,QIN Xin-ling4,LI Zheng4,ZHAO Qin2,ZHENG Ming-ci1(1.Department of Pediatrics;2.Department of Perinatal Medicine;3.Department of Obstetrics;4.Department of Laboratory,Affiliated Hospital of Guilin Medical College,Guilin 541001,Guangxi Zhuang Autonomous Region,China)  
Objective To investigate the etiology of microcytosis and hypochromia group in Guilin city.Methods After confirmed as microcytosis and hypochromia by blood smears,634 individuals were taken the tests including serum ferritin by immunofluorescence method,hemoglobin electropheresis,3 types (--SEA,-α3.7,-α4.2) of α hemoglobin gene deletions by multi-polymorcise chain reaction(PCR),17 kinds point mutations of β hemoglobin gene and 3 kinds of point mutations of α hemoglobin gene by reverse dot blot.Results Among 634 individuals,271 cases with α thalassemia (8 cases of them combined with iron deficency),281 cases with β thalassemia (17 cases of them combined with iron deficency),56 cases with iron deficeny,15 cases with α thalassemia combined with β thalassemia,4 cases with HbE hete-rozygotes,2 cases with -α4.2/αα combined with high HbF,2 cases with high HbF. However,the etiology of 3 cases remain unknow. The incidence of thalassemia,including α thalassemia and β thalassemia and αβ thalassemia and HbE heterozygotes and high HbF was 90.69%. The incidence of iron deficency,including the cases combined with thalassemia was 12.78%. The incidency of unknow etiology was 0.05%.Conclusions The major etiology of microcytosis and hypochromia group in Guilin city lies in thalassemia. The molecular skills should be paid importance to avoid missed diagnosis and misdiagnosi in clinic.
【Fund】: 教育部“春晖计划”项目资助(Z2005-2-45005)
【CateGory Index】: R556
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