Article
Identification of a rare compound heterozygous hemoglobin variant β0-thal [β17(A14) Lys>Stop, HBB: c.52A>T] and Hb J-Lome [β59(E3) Lys>Asn, HBB: c.180G>C].
Hematology (Amsterdam, Netherlands) - 1 Dec 2022
Chen Zixin, Shao Limei, Jiang Mingfeng, Ma Run, Ping Hongfen, Wang Zuo, Ba Xuejiao, Ma Bingjie, Zhou Tao
Abstract excerpt
BACKGROUND: HbA1c is the validated biomarker for glycemic management in diabetic individuals. Here, we report a compound heterozygote for β0-thal and Hb J-Lomeand evaluate its effect on HbA1c measurements. METHODS: A 51-year-old female was suspected of harboring a hemoglobin variant following no value of HbA1c levelby Arkray HA-8180 V (48s HbA1c mode), abnormal hematological data, and abnormalhemoglobin...
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