Abstract
BackgroundThalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by Jiangxi provincial health system and government due to lack of epidemiological data.Materials and MethodsA total of 9489 samples from Hakka Han and Gan-speaking Han in three geographical areas of Jiangxi Province were analyzed for both complete blood cell (CBC) count and reverse dot blot (RDB) gene chip for thalassemia.Results1182 cases of suspected thalassemia carriers with microcytosis (MCV<82 fL) were found by CBC count, and were tested by RDB gene chip to reveal a total of 594 mutant chromosomes, including 433 α-thalassemia mutant chromosomes and 172 β-thalassemia mutant chromosomes. Our results indicated a higher prevalence of thalassemia with the heterozygote frequency of 9.49% in southern Jiangxi province, whereas the low frequency was found in middle (3.90%) and northern Jiangxi (2.63%).ConclusionsBased on the epidemiological data, the estimated numbers of pregnancies in Jiangxi province in which the fetus is at risk for β-thalassemia major or intermedia, Bart's hydrops fetalis and Hb H disease are 34 (95% CI, 16 to 58), 79 (95% CI, 50 to 114) and 39 (95% CI, 27 to 58) per year, respectively. We suggested that prevention network of thalassemia should be established, especially in high prevalent southern Jiangxi (Hakka Han), including establishment of thalassemia database collection, hematological analysis laboratories, genetic counselling clinics, prenatal diagnosis centers and neonatal screening centers.
Highlights
Thalassemia is inherited as an autosomal recessive disorder characterized by microcytic hypochromic anemia, and a clinical phenotype varying from almost asymptomatic to a lethal hemolytic anemia
Two decade have elapsed since a relative low incidence of thalassemia (a-thalassemia: 2.60%; b-thalassemia: 0.18%) was reported by a large scale survey of hemoglobin variants and thalassemia in Jiangxi province (1987), this disorders was usually ignored by health system and government [9]
This result was conflicting with the finding of our molecular epidemiological study (2011) for common a-thalassemia and b-thalassemia on border to southern Jiangxi province (Meizhou region of northeast Guangdong) [7]
Summary
Thalassemia is inherited as an autosomal recessive disorder characterized by microcytic hypochromic anemia, and a clinical phenotype varying from almost asymptomatic to a lethal hemolytic anemia. 5% of the global populations are carriers of this disorder, with about 60,000 children with a-thalassemia major and 43,917 symptomatic bthalassemia individuals born annually, the great majority is in the developing world [2,3] It creates a major public health problem and social burden to the people in endemic regions [2,4]. Two decade have elapsed since a relative low incidence of thalassemia (a-thalassemia: 2.60%; b-thalassemia: 0.18%) was reported by a large scale survey of hemoglobin variants and thalassemia in Jiangxi province (1987), this disorders was usually ignored by health system and government [9] This result was conflicting with the finding of our molecular epidemiological study (2011) for common a-thalassemia and b-thalassemia on border to southern Jiangxi province (Meizhou region of northeast Guangdong) [7]. This disorder is usually ignored by Jiangxi provincial health system and government due to lack of epidemiological data
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