Current status of thalassemia in minority populations in Guangxi, China

Clinical Genetics
H F PanT Huang

Abstract

Thalassemia is one of the most common monogenic disorders in the world. In order to develop a community-based prevention program, we screened 12,900 individuals for alpha- and beta-thalassemia in Baise City, Guangxi, China, with hematological methods and molecular assays. We found that the frequency of carriers in this area for alpha-thalassemia is 15%. Beta-thalassemia carriers comprise 4.8% of the populations. Five mutations account for 98% of alpha-thalassemia [--SEA 46.7%; -alpha/4.2, 23.9%; -alpha/3.7, 21.7%; hemoglobin (Hb) Constant Spring, 6.5%; Hb Quong Sze, 1.1%]. Seven mutations in the beta-globin gene account for 99% of the mutations [codon (CD) 41/42 (-TCTT) (39.4%), CD 17(A-->T) (32%), CD 71/72 (+A) (7.4%), -28 (A-->G) (5.8%), IVS-2-654 (C-->T) (5.8%), CD26 (Hb E) (4%), IVS-1 (G-->A) (3.7%), and CD 43(G-->T) (1.9%)]. Most individuals with alpha-thalassemia major die in the uterus or shortly after birth. Among 106 patients with beta-thalassemia major followed by our clinic, the majority died before 5 years of age. Knowledge surveys about thalassemia were conducted. Our results show a severe lack of knowledge about thalassemia in both medical professionals and in the general populations. This study shows that thalass...Continue Reading

References

Jan 5, 1967·The New England Journal of Medicine·Y W KanL Lowenstein
Feb 15, 2000·Clinical and Laboratory Haematology·J KarnonB Modell
Jul 11, 2002·Obstetrics and Gynecology Clinics of North America·Antonio CaoR Galanello
Sep 28, 2002·American Journal of Hematology·Saovaros SvastiSuthat Fucharoen
Oct 11, 2002·The New England Journal of Medicine·Suhaib AhmedMary Petrou
Nov 15, 2002·International Journal of Hematology·Antonio Cao
Jan 2, 2003·Nature Reviews. Genetics·Ala' Alwan, B Modell
Oct 25, 2003·Science·D J Weatherall
May 28, 2004·Clinical and Laboratory Haematology·B E Clark, S L Thein
Jul 22, 2004·Nature Reviews. Genetics·D J Weatherall
Aug 25, 2004·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·S SirichotiyakulT Tongsong
Jan 22, 2005·Annual Review of Medicine·Stanley L Schrier, Emanuele Angelucci
Oct 1, 2005·Journal of Genetic Counseling·Christina ArmeliDeborah Eunpu
Dec 13, 2005·Annals of the New York Academy of Sciences·D J Weatherall
Dec 13, 2005·Annals of the New York Academy of Sciences·Michel SadelainIsabelle Riviere

Citations

Sep 11, 2013·Indian Journal of Human Genetics·Ajay F ChristopherSatish C Agrawal
Jul 5, 2013·Archives of Gynecology and Obstetrics·Sheng HeChen-Guang Zheng
Mar 8, 2016·Evidence-based Complementary and Alternative Medicine : ECAM·Yan-Ling ChengZhi-Kui Wu
Dec 22, 2009·Blood Cells, Molecules & Diseases·Haiyan XiaoNing Fu
Mar 12, 2011·Pediatric Blood & Cancer·Xiao-Lin YinXin-Hua Zhang
Dec 2, 2010·International Journal of Laboratory Hematology·Y N LiuD Z Li
Feb 24, 2012·Hemoglobin·Ahmet GencMurat Celiker
Oct 29, 2009·BMC Public Health·Liang LuQiyong Liu
Aug 17, 2010·BMC Medical Genetics·Nanfang LiJianhang Chang
Aug 26, 2011·Parasites & Vectors·Peng ZhouXing-Quan Zhu
Oct 26, 2011·Clinical Chemistry and Laboratory Medicine : CCLM·Ying-Na LiuDong-Zhi Li
Jun 4, 2010·PLoS Neglected Tropical Diseases·Louis LambrechtsDuane J Gubler
Apr 5, 2011·The Korean Journal of Hematology·Muhammad UsmanSyed Azhar Ahmed
Apr 11, 2019·Molecular Genetics & Genomic Medicine·Zhuo YangBing Han
Nov 19, 2010·Expert Review of Hematology·Roshan ColahAnita Nadkarni
Apr 17, 2020·International Journal of Laboratory Hematology·Zhenzhen YinJie Huang
Feb 13, 2018·Experimental and Therapeutic Medicine·Xiaohong LiFaquan Lin
May 26, 2017·Tropical Medicine & International Health : TM & IH·Yuzhen LiangYongrong Lai
Nov 24, 2019·Journal of Assisted Reproduction and Genetics·Jing WangYan-Wen Xu

Related Concepts

Antenatal Screening Procedures
Thalassemia

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.