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Hematology Reports
Volume 11
Issue 3
10.4081/hr.2019.7911
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Case Report

Rare Double Heterozygosity for Poly A(A>G) and CD17(A>T) of Beta Thalassemia Intermedia in a Chinese Family

by
Jianhong Xie
*,
Yuqiu Zhou
,
Qizhi Xiao
,
Ruoting Long
,
Lianxiang Li
and
Lei Li
Department of Clinical Laboratory, Zhuhai Municipal Maternal and Child Healthcare Hospital, Zhuhai 519001, China
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2019, 11(3), 7911; https://doi.org/10.4081/hr.2019.7911
Submission received: 16 October 2018 / Revised: 2 July 2019 / Accepted: 5 July 2019 / Published: 18 September 2019

Abstract

Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. Three types have been defined, based on the degree of reduced beta-globin chain synthesis and clinical phenotype: major, intermedia and minor (heterozygote carrier state). Beta thalassemia intermedia is characterized by heterogeneity for the wide clinical spectrum of various genotypes and a wide range of presentations. The genotypes of beta thalassemia intermedia are much complicated referring to β+/β+,β+/β0, Hb E/β0, β0/β0 compounding alpha thalassemia and so on. In this present case, we reported a rare beta thalassemia intermedia genotype of double heterozygosity for poly A (A>G) and CD17(A>T) indicated of β+/β0 in a Chinese family.
Keywords: thalassemia; intermedia; screening; DNA sequencing thalassemia; intermedia; screening; DNA sequencing

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MDPI and ACS Style

Xie, J.; Zhou, Y.; Xiao, Q.; Long, R.; Li, L.; Li, L. Rare Double Heterozygosity for Poly A(A>G) and CD17(A>T) of Beta Thalassemia Intermedia in a Chinese Family. Hematol. Rep. 2019, 11, 7911. https://doi.org/10.4081/hr.2019.7911

AMA Style

Xie J, Zhou Y, Xiao Q, Long R, Li L, Li L. Rare Double Heterozygosity for Poly A(A>G) and CD17(A>T) of Beta Thalassemia Intermedia in a Chinese Family. Hematology Reports. 2019; 11(3):7911. https://doi.org/10.4081/hr.2019.7911

Chicago/Turabian Style

Xie, Jianhong, Yuqiu Zhou, Qizhi Xiao, Ruoting Long, Lianxiang Li, and Lei Li. 2019. "Rare Double Heterozygosity for Poly A(A>G) and CD17(A>T) of Beta Thalassemia Intermedia in a Chinese Family" Hematology Reports 11, no. 3: 7911. https://doi.org/10.4081/hr.2019.7911

APA Style

Xie, J., Zhou, Y., Xiao, Q., Long, R., Li, L., & Li, L. (2019). Rare Double Heterozygosity for Poly A(A>G) and CD17(A>T) of Beta Thalassemia Intermedia in a Chinese Family. Hematology Reports, 11(3), 7911. https://doi.org/10.4081/hr.2019.7911

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