Development of the simple-rapid diagnosis method of hemoglobinopathies, thalassemias and abnormal hemoglobins

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The diagnosis and the simple-rapid diagnostic method for the abnormal hemoglobins(Hb) and thalassemias(thal) were discussed.1.PCR-direct sequence analysis of DNAs from two Japanese identified to be a new abnormal Hb Fukui[α 139(HC1)Lys→Asn] with the mutation in the a 2 gene which is the same codon to Hb Hanamaki and Hb Tokoname, and Hb Turriff[α 99(G6)Lys→Glu] with the mutation in the α 1 gene.2.The Myanmar β^E-gene was identified by PCR-RFLP, and among three haplotypes detected, the C type + --+ + + was characteristic for Myanmar.3.After the CBC of 250 Thai subjects was determined, the Hb A_2 level was determined by an automated Hb A_2 analyzer, HLC-723G7. β-Thal was diagnosed by the ARMS and PCR-direct sequence methods, and α-thal done by the Gap method. The scattered grams of Hb A_2-MCV and Hb A_2-MCH resulting from these data, suggested that the β thal carriers have higher Hb A_2 level than 4% and lower MCV and MCH than the normal, and the α thal carriers lower level of Hb A_2, MCV and MCH than the normal, in which the α thal-1 cases were rather severe than the α-thal-2 cases.4.The SNaPshot method was applied to the detection of abnormal Hbs and thals, and showed the possibility to find out many mutations at one reaction. Additionally, the application of the Real Time PCR method was useful for the diagnosis of β thal with the deletion of long region.