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.
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Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
Jiang, Fan
Ju, Ai-Ping
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Hu Zhong Hosp, Clin Lab, Guangzhou, Guangdong, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
Ju, Ai-Ping
Li, Jian
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Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
Li, Jian
Chen, Gui-Lan
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Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
Chen, Gui-Lan
Zhou, Jian-Ying
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Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
Zhou, Jian-Ying
Tang, Xue-Wei
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Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
Tang, Xue-Wei
Zuo, Lian-Dong
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Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
Zuo, Lian-Dong
Li, Dong-Zhi
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Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
机构:
Chiang Mai Univ, Fac Associated Med Sci, Dept Med Technol, 110 Intawaroros Rd, Chiang Mai 50200, ThailandChiang Mai Univ, Fac Associated Med Sci, Dept Med Technol, 110 Intawaroros Rd, Chiang Mai 50200, Thailand
Rungsee, Pitchaporn
Kongthai, Kanyakan
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Hlth Promoting Hosp Chiang Mai, Chiang Mai, ThailandChiang Mai Univ, Fac Associated Med Sci, Dept Med Technol, 110 Intawaroros Rd, Chiang Mai 50200, Thailand