[Study on the screening program of thalassemia and the genotype and hematologic parameter among people of productive age in a village, Nanning Guangxi].
OBJECTIVE
To investigate the carrier ratio and the genotype of thalassemia in the rural people of reproductive age in Nanning, and to analyze the characteristics of hematologic parameter in thalassemia carriers.


METHODS
2044 cases of productive age youths were detected with hemoglobin autoanalyse-Variant (HPLC) and Cell Dyn 1700 automatic hemocyte analysator. Among them,430 cases (75 couples randomly selected in thalassemia screening, 140 couples who were told that one or both of them were positive for thalassemia phenotype through hemocyte analysis) carried out thalassemia gene detection in synchronism.


RESULTS
163 cases were detected beta-thalassemia and the thus beta-thalassemia carrier ratio was 7.97%. 13 cases were detected HbH disease, and 2 cases Hb Manitoba, 2 cases HbJ, and 1 case HbQ. As for genotypes,-alpha (3.7)/alpha,-alpha(CS)/alphaalpha and -alpha(WS)/alphaalpha were common ones with in alpha-thalassemia-2, --(SEA)/alphaalpha the most common one in alpha-thalassemia-1, and 41-42 were the most common ones in beta-thalassemia heterozygotes. The detection ratio of alpha,beta combination thalassemia was also relatively high. Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were low in all cases of HbH disease and beta-thalassemia, also low in 86 cases of alpha-thalassemia-1 with the exception of normal MCH in 1 case, yet normal in 17 cases out of 66 cases of alpha-thalassemia-2. HbF raised in 32 cases out of 69 cases of beta-thalassemia heterozygote, no case showed raised HbF without the raise of HbA2. Hematologic characteristic of alpha, beta combination thalassemia was mainly caused by beta-thalassemia.


CONCLUSIONS
Carrier ratio of thalassemia in rural productive age youths in Nanning was high while alpha-thalassemia-2 with the genotype -alpha(WS)/alphaalpha and -alpha(CS)/ alphaalpha were common. To those with low MCV and MCH in high-risk region, thalassemia should be suspected.
Zhang
Xin-Hua
XH
Department of Hematology, The 303 Hospital of People's Liberation Army, Nanning 530021, China.
Zhou
Ying-Jie
YJ
Li
Ping-Ping
PP
Luo
Rui-Gui
RG
Ruan
Li-Ming
LM
Wang
Rong-Xin
RX
Wu
Zhi-Kui
ZK
Li
Min
M
Huang
You-Wen
YW
D000328:Adult; D002353:Carrier State; D002681:China / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D008403:Mass Screening; D012424:Rural Population; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*