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Hematology Volume 29, 2024 - Issue 1
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Research Article

Hb H disease associated with compound heterozygosity for --SEA deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family

Manna Suna Department of Obstetrics & Gynecolog, Dongguan Maternal and Children Hospital, Dongguan, People’s Republic of China;b Dongguan Key Laboratory of Maternal and Fetal Medicine, Dongguan, People’s Republic of ChinaView further author information
,
Jiwu Louc Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, People’s Republic of China;d Dongguan Key Laboratory of Reproduction and Birth Defects Prevention and Control, Dongguan, People’s Republic of China;e Dongguan Key Laboratory of Genetic Disorder Prenatal Testing Precision medicine, Dongguan, People’s Republic of ChinaView further author information
,
Wang Xinghea Department of Obstetrics & Gynecolog, Dongguan Maternal and Children Hospital, Dongguan, People’s Republic of China;b Dongguan Key Laboratory of Maternal and Fetal Medicine, Dongguan, People’s Republic of ChinaView further author information
,
Ying Zhaoc Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, People’s Republic of China;d Dongguan Key Laboratory of Reproduction and Birth Defects Prevention and Control, Dongguan, People’s Republic of China;e Dongguan Key Laboratory of Genetic Disorder Prenatal Testing Precision medicine, Dongguan, People’s Republic of ChinaView further author information
,
Yunshi Daic Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, People’s Republic of China;d Dongguan Key Laboratory of Reproduction and Birth Defects Prevention and Control, Dongguan, People’s Republic of China;e Dongguan Key Laboratory of Genetic Disorder Prenatal Testing Precision medicine, Dongguan, People’s Republic of ChinaView further author information
,
Shuangai Liuc Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, People’s Republic of China;d Dongguan Key Laboratory of Reproduction and Birth Defects Prevention and Control, Dongguan, People’s Republic of China;e Dongguan Key Laboratory of Genetic Disorder Prenatal Testing Precision medicine, Dongguan, People’s Republic of ChinaView further author information
&
Tizhen Yanc Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, People’s Republic of China;d Dongguan Key Laboratory of Reproduction and Birth Defects Prevention and Control, Dongguan, People’s Republic of China;e Dongguan Key Laboratory of Genetic Disorder Prenatal Testing Precision medicine, Dongguan, People’s Republic of ChinaCorrespondence[email protected]
View further author information
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Article: 2339559 | Received 27 Sep 2023, Accepted 01 Apr 2024, Published online: 16 Apr 2024

References

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  • Lacan P, Francina A, Souillet G, et al. Two new alpha chain variants: Hb Boghe [α58(E7)His–>Gln, α2], a variant on the distal histidine, and Hb CHarolles [α103(G10)His-Tyr, α1]. Hemoglobin. 1999;23(4):345–352. doi:10.3109/03630269909090750
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