OBJECTIVETo 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.

METHODS2044 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.

RESULTS163 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.

CONCLUSIONCarrier 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.

Adult ; Carrier State ; China ; epidemiology ; Genotype ; Humans ; Mass Screening ; Rural Population ; alpha-Thalassemia ; diagnosis ; epidemiology ; genetics ; beta-Thalassemia ; diagnosis ; epidemiology ; genetics

Few literatures have elaborated on the clinical characteristics of children with thalassemia from low-prevalence areas. A retrospective analysis was conducted on children genetically confirmed with thalassemia at Seoul National University Children's Hospital in Korea. Nine children (1alpha thalassemia trait, 6beta thalassemia minor, 2beta thalassemia intermedia) were diagnosed with thalassemia at median age of 4.3 yr old with median hemoglobin of 9.7 g/dL. Seven (78%) children were incidentally found to be anemic and only 2 with beta thalassemia intermedia had presenting symptoms. Five children (56%) were initially misdiagnosed with iron deficiency anemia. Despite the comorbidities due to alpha thalassemia mental retardation syndrome, the child with alpha thalassemia trait had mild hematologic profile. Children with beta thalassemia intermedia had the worst phenotypes due to dominantly inherited mutations. None of the children was transfusion dependent and most of them had no complications associated with thalassemia. Only 1 child (11%) with codon 60 (T-->A) mutation of the HBB gene needed red blood cell transfusions. He also had splenomegaly, cholelithiasis, and calvarial vault thickening. Pediatricians in Korea must acknowledge thalassemia as a possible diagnosis in children with microcytic hypochromic hemolytic anemia. High level of suspicion will allow timely diagnosis and managements.
Blood Transfusion ; Child ; Child, Preschool ; Female ; Genotype ; Hemoglobin A, Glycosylated/genetics ; Hemoglobin A2/genetics ; Humans ; Male ; Medical Records/statistics & numerical data ; Prevalence ; Republic of Korea/epidemiology ; Retrospective Studies ; alpha-Globins/*genetics ; alpha-Thalassemia/diagnosis/epidemiology/*genetics ; beta-Globins/*genetics ; beta-Thalassemia/diagnosis/epidemiology/*genetics