Prenatal diagnosis of thalassemia in the Chinese

Abstract

There is a high prevalence of thalassemia in the Taiwan area. Prenatal diagnosis of severe forms of thalassemia is important for the prevention of this disease. We performed prenatal diagnosis in 167 cases, of which 59 cases were diagnosed by chorionic villi biopsy, 91 cases by amniotic fluid analysis, and 17 cases by cord blood analysis. Hb Bart's hydrops was detected by amplifying the break junction area of the ␣-thalassemia-1 Southeast Asia (SEA)-type gene, and ␤-thalassemia major was detected by using naturally occurring restriction sites and the amplified created restriction sites (ACRS) method. Screening for hemoglobin (Hb) Bart's hydrops revealed 26 cases of Hb Bart's hydrops, 67 cases of ␣-thalassemia-1 (including 6 Hb Bart's hydrops falsely diagnosed as ␣-thalassemia-1 from chorionic villi samples), and 38 normal cases. Screening for ␤-thalassemia major revealed 8 cases of ␤-thalassemia major, 17 cases of ␤-thalassemia minor, and 11 normal cases. In cases of ␣-thalassemia, maternal tissue contamination in the chorionic villi samples occurred in the diagnosis of the carrier state and further amniotic fluid analysis will be necessary. There were no any false-positive or false-negative results in ␤-thalassemia major screening. We conclude that prenatal diagnosis is a reliable and accurate screening method for thalassemia and may be valuable in other areas of high prevalence for thalassemia in Southeast Asia and in Southern China. Am. J. Hematol. 55:65-68, 1997.

Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population

“…This observation supports previous publications suggesting Southern Chinese have distinctive genetic characteristics from that of the Northern Chinese. Studies on glucose-6-phosphate dehydrogenase deficiency, Thalassemia and debrisoquin hydroxylation phenotype have reported the finding of genetic variation amongst Chinese subjects from different regions (Wang et al, 1993;Tang et al, 1992;Tang et al, 1993;Liu et al, 1997). Tang et al 1999 have also identified a recurrent BRCA1 mutation 589-590delCT related to early onset breast cancer in 3 unrelated patients of Southern Chinese origin.…”

Hydrops Fetalis Caused by α-Thalassemia: An Emerging Health Care Problem

“…61 A recurring theme of the many case reports of this syndrome is that the correct diagnosis could have been made early in pregnancy, should the physicians have been alert to this diagnostic possibility. 26,53,54,[57][58][59][61][62][63][64][65][66][67]71,[106][107][108][109][110][111][112][113][114][115][116][117] They reaffirm the need for public education, both for the medical community and for the population at large. Blood counts are often performed as part of the medical examinations, particularly on all pregnant women during their first visits to physicians.…”

The Experiences of Prenatal Diagnosis in China

“…There were other techniques used in China for prenatal diagnosis, such as allele specific PCR(AS-PCR) [37], multiplex AS-PCR [38]. Another approach is RFLP analysis by introducing an artificial base substitution to create restriction sites.…”