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Current status of thalassemia in minority populations in Guangxi, China
Author(s) -
Pan HF,
Long GF,
Li Q,
Feng YN,
Lei ZY,
Wei HW,
Huang YY,
Huang JH,
Lin N,
Xu QQ,
Ling SY,
Chen XJ,
Huang T
Publication year - 2007
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00791.x
Subject(s) - thalassemia , beta thalassemia , china , medicine , population , genetics , pediatrics , biology , environmental health , geography , archaeology
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 α‐ and β‐thalassemia in Baise City, Guangxi, China, with hematological methods and molecular assays. We found that the frequency of carriers in this area for α‐thalassemia is 15%. β‐thalassemia carriers comprise 4.8% of the populations. Five mutations account for 98% of α‐thalassemia [−−SEA 46.7%; −α/4.2, 23.9%; −α/3.7, 21.7%; hemoglobin (Hb) Constant Spring, 6.5%; Hb Quong Sze, 1.1%]. Seven mutations in the β‐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 α‐thalassemia major die in the uterus or shortly after birth. Among 106 patients with β‐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 thalassemia is a very severe public health issue in minority populations in Baise City, China. Identification of the common mutations will allow us to design cost‐effective molecular tests. There is an urgent need to educate the general population and the medical community for a successful community‐based prevention program.