Clinical Characteristics of Heterozygote and Double Heterozygote of Three Rare Mutations in alpha- Thalassemia
XU Juan-juan
QIU Xiao-xia
DU Juan
LI Meng
HUANG Ping-li
LI Jiao
Abstract：Objective:To examine clinical characteristics of heterozygote and double heterozygote of three rare mutations [Hb Constants Spring(Hb CS),Hb Westmead(Hb WS) and Hb Quong Sze(Hb QS)] among alpha-thalassemia patients in Guangxi province, China. Methods:135 alpha-thalassemia patients, and 40 controls, were included in this study. Routine examination of blood and hemoglobin electrophoresis were performed. The alpha-thalassemia mutations were detected using Gap-PCR and reverse dot-blotting. Results:There were no clinical symptoms in three heterozygote groups and the double heterozygote group of αCSα/αWSα. MCV and MCH in the heterozygote group of Hb QS were significantly lower than those in other heterozygote groups (Hb CS and Hb WS) (P<0.05). However,there was mild clinical symptoms in the double heterozygote group of αCSα/αQSα, while MCV and MCH were also significantly lower than those in other heterozygote groups (Hb CS and Hb WS) (P<0.05). Conclusions: The heterozygote Hb CS,heterozygote Hb WS and double heterozygoteαCSα/αWSαare the silent carrier in clinical manifestations, the heterozygote Hb QS is the thalassemia trait, and the double heterozygote αCSα/αQSα is similar to the HbH disease. It is important to note this variability of clinical manifestations of those double heterozygotes in genetic consultation.
Keywords：Alpha-ThalassemiaPoint mutationGenotypeHeterozygote
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 172-174 )