ORIGINAL ARTICLE

The prevalence and spectrum of and ß thalassaemia in Guangdong Province: implications for the future health burden and population screening

X M Xu¹, Y Q Zhou², G X Luo³, C Liao⁴, M Zhou⁵, P Y Chen⁶, J P Lu⁷, S Q Jia¹, G F Xiao², X Shen³, J Li⁴, H P Chen⁵, Y Y Xia⁶, Y X Wen⁷, Q H Mo¹, W D Li², Y Y Li³, L W Zhuo⁴, Z Q Wang⁵, Y J Chen⁶, C H Qin⁷ and M Zhong⁸

¹ Department of Medical Genetics, First Military Medical University, Guangzhou 510515, Guangdong, PR China
² Zhuhai Municipal Maternity and Child Healthcare Hospital, Zhuhai 519000, Guangdong, PR China
³ The Affiliated Hospital, Guangdong Medical College, Zhanjiang 524001, Guangdong, PR China
⁴ Guangzhou Municipal Maternity and Child Healthcare Hospital, Guangzhou 510180, Guangdong, PR China
⁵ Guangdong Provincial Peoples’ Hospital, Guangzhou 510080, Guangdong, PR China
⁶ Shaoguan Municipal Maternity and Child Healthcare Hospital, Shaoguan 512026, Guangdong, PR China
⁷ Shantou Municipal Second Peoples’ Hospital, Shantou 515011, Guangdong, PR China
⁸ Department of Obstetrics and Gynaecology, Nanfang Hospital, First Military Medical University, Guangzhou 510515, Guangdong, PR China

Correspondence to:
Correspondence to:
Dr X M Xu
Department of Medical Genetics, First Military Medical University, Tonghe 510515, Guangzhou, Guangdong, PR China; gzxuxm{at}pub.guangzhou.gd.cn

Aim: Thalassaemia is a good candidate disease for control by preventive genetic programmes in developing countries. Accurate population frequency data are needed for planning the control of thalassaemia in the high risk Guangdong Province of southern China.

Methods: In total, 13 397 consecutive samples from five geographical areas of Guangdong Province were analysed for both haematological and molecular parameters.

Results: There was a high prevalence of carriers of thalassaemia (8.53%), ß thalassaemia (2.54%), and both and ß thalassaemia (0.26%). Overall, 11.07% of the population in this area were heterozygous carriers of and ß thalassaemia. The mutation spectrum of and ß thalassaemia and its constitution were fully described in this area. This study reports the true prevalence of silent thalassaemia in the southern China population for the first time. In addition, two novel mutations that give rise to thalassaemia, one deletion resulting in ß thalassaemia, and a rare deletion (––^THAI allele) previously unreported in mainland China were detected. The frequency of the most common mutation, the Southeast Asian type of deletion (––^SEA, accounting for 48.54% of all thalassaemias) was similar to the total of two ⁺ thalassaemia deletions (–^3.7 and –^4.2, accounting for 47.49% of thalassaemia).

Conclusion: Both and ß thalassaemia are widely distributed in Guangdong Province of China. The knowledge gained in this study will enable the projected number of pregnancies at risk to be estimated and a screening strategy for control of thalassaemia to be designed in this area.

Keywords: thalassaemia; epidemiology; mutations; Hb H disease; genetic screening

Abbreviations: CI, confidence interval; Hb, haemoglobin; MCV, mean corpuscular volume; PCR, polymerase chain reaction; RDB, reverse dot blot

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Tang, L, Zhu, P, Zhou, W J, Zheng, J, Zhou, Y Q, Fu, N, Xu, X M (2009). Development and validation of a {zeta}-globin-specific ELISA for carrier screening of the (--SEA) {alpha} thalassaemia deletion. J. Clin. Pathol. 62: 147-151 [Abstract] [Full Text]  
• Mo, Q-H, Li, X-R, Li, C-F, He, Y-L, Xu, X-M (2005). A novel frameshift mutation (+G) at codons 15/16 in a {beta}0 thalassaemia gene results in a significant reduction of {beta} globin mRNA values. J. Clin. Pathol. 58: 923-926 [Abstract] [Full Text]