Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis

被引:4
|
作者
Panyasai, Sitthichai [1 ]
Sakkhachornphop, Supachai [2 ]
Pornprasert, Sakorn [3 ]
机构
[1] Univ Phayao, Sch Allied Hlth Sci, Phayao, Thailand
[2] Chiang Mai Univ, Res Inst Hlth Sci, Chiang Mai, Thailand
[3] Chiang Mai Univ, Fac Associated Med Sci, Dept Med Technol, 110 Intawaroros Rd, Chiang Mai 50200, Thailand
关键词
Capillary electrophoresis; HbA(2); HbD-Punjab; Hb Tak; HPLC; CO-INHERITANCE; FAMILIES; THAILAND; TAK; PCR;
D O I
10.1007/s12288-017-0810-3
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A misdiagnosis of beta-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the beta-variants, can be a cause of inappropriate genetic counseling thus having a new case of beta-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA(2). In this study, HbA(2) levels of samples which were doubted for compound heterozygous Hb Tak/beta-thalassemia or heterozygous HbD-Punjab/beta-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC). The molecular confirmation for Hb Tak, HbD-Punjab and beta-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A) and IVSI-nt1 (G > T) mutations and 3.4 kb deletion were also performed. Based on DNA analysis, 3 cases were diagnosed as compound heterozygous Hb Tak/beta-thalassemia and one for HbD-Punjab/beta-thalassemia. The elevated HbA(2) levels were found in all 4 samples with rages of 4.6-7.3% on CE while those were not found on HPLC. Thus, the elevated HbA(2) measured by CE can be used as a screening parameter for differentiating the homozygote of Hb Tak and HbD-Punjab from the compound heterozygote of these hemoglobinopathies and beta-thalassemia.
引用
收藏
页码:110 / 114
页数:5
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