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《Journal of Applied Clinical Pediatrics》 1994-01
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Beta thalassemia on children: the molecular basis and treatment

Huang You-Wen; Wang Rong-Xin; Cha Dan-Yu; Liu Li-Juan;Jin He-Qian; Liu De-Pei; Liang Zhi-Quan; Yang Ke-Gong;Chen Song-Sen; Wu Zhi-Kui(PLA 303rd Hospital, Nanning, Instiute of Basic Medical Science,CAMS, Guanganmen Hospital, Chinese Traditional Research  
Objectives To investigate for the types and incideuce of gene mutations with beta thalarsemia as will as the effect treated with myleran and chinese traditional medicine.Methods The 56 chromosomes in 30 cases of beta thalasremia diagnosed in clinic were analysed by polymeras chian reaction (PCR) and dot hybridizztion with specific olignucleotide probe. According to this,the types and incidence of gene mutation in the patients with beta thalassemia were difined. The 13 Cases of beta thalassemia were treated by myleran and 6 cases were treated by tonifying the kidney and notirishing blood drugs.Results The numbers of chromosomes of gene mutation are as follows: Codon41-42 (-TTCT) 23,Codon17 (A-T) 14, Codon 71-72 (+A) 7, - 28 (A- G) 5, - 29 (A- G) 8, IVS-Ⅱ-654 (C-T) 3,IVS-Ⅰ- 5 (G-T) 1. The 8 cases were effective in 13 cases of beta thalassemia treated by myleran and 5 of 6 cases treated by tonifying the kidney and nourishing blood drugs were effective. Its Hemoglobings,erythrocytes and reticulocytes were raised.Conclusions The types of gene mutations in this group are 7 kinds and myleran and Chinese traditional medicine were effective certianly to treat heta thalassemia.
【CateGory Index】: R725.5
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1 Ou Weilin(The Department of Pediatrics,Affiliated Hospital of Guilin Medical College(541001));A Research On the Relation of Thalassemia to the Secondary Marrow Fibrosis[J];;1995-02
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