鉴定出一种罕见的复合杂合血红蛋白变异β0-地中海贫血[β17(A14) Lys>Stop，HBB:c.52A>T]和 Hb J-Lome [β59(E3) Lys>Asn，HBB:c.180G>C]。

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].

机构信息

Department of Clinical Laboratory, The Second Affiliated Hospital of Kunming Medical University, Kunming, People's Republic of China.

Department of Clinical Laboratory, Sichuan Center for Disease Control and Prevention, Sichuan, People's Republic of China.

出版信息

Hematology. 2022 Dec;27(1):946-950. doi: 10.1080/16078454.2022.2114672.

DOI:10.1080/16078454.2022.2114672

PMID:36004523

Abstract

BACKGROUND

HbA1c is the validated biomarker for glycemic management in diabetic individuals. Here, we report a compound heterozygote for β-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 analysison capillary electrophoresis (Capillarys 2 Flex Piercing, Hb program). Sanger sequencing of the α and β genes was subsequently performed on the proband.HbA1c was reanalyzed using D10 (Bio-Rad), Capillarys 2 Flex Piercing (Sebia), and Roche Cobas c501 (Roche Diagnostics).

RESULTS

Sanger sequencing identified a compound heterozygote for β-thal [β17(A14) Lys > Stop, HBB: c.52A > T] and Hb J-Lome [β59(E3) Lys > Asn, HBB: c.180G > C].HbA1c values ⁣⁣determinedby D10, Capillarys 2 Flex Piercing (HbA1c program), and Roche Cobas c501were 2.3%, no HbA1c value, and 5.1 (32 mmol/mol), respectively. During pedigree analysis, the son of the proband was found to have normal blood glucose (5.55 mmol/L), decreased HbA1c (3.6%, 16 mmol/mol)by Arkray HA-8180 V (48s HbA1c mode), an abnormal band on the electrophoretogram of Capillarys2 (Hb program), and the Hb J-Lome mutation in the β globin gene.Subsequently, HbA1c values ⁣⁣determinedby D10, Capillarys 2 Flex Piercing (HbA1c program), and Roche Cobas c501 were4.0% (20 mmol/mol), no HbA1c value, and 5.0 (31 mmol/mol), respectively.

CONCLUSION

Atypically low HbA1c levels or a discrepancy between blood glucose and HbA1c levels should raise concerns about hemoglobin variations.

摘要

背景

HbA1c 是糖尿病患者血糖管理的验证生物标志物。在这里，我们报告了一例β-地中海贫血和 Hb J-Lome 的复合杂合子，并评估了其对 HbA1c 测量的影响。

方法

一名 51 岁女性因 Arkray HA-8180V（48s HbA1c 模式）的 HbA1c 水平无值、异常血液学数据和毛细管电泳（Capillarys 2 Flex Piercing，Hb 程序）的异常血红蛋白分析而疑似携带血红蛋白变异。随后对先证者的α和β基因进行了 Sanger 测序。使用 D10（Bio-Rad）、Capillarys 2 Flex Piercing（Sebia）和罗氏 Cobas c501（罗氏诊断）重新分析了 HbA1c。

结果

Sanger 测序鉴定出β-地中海贫血[β17（A14）Lys>终止，HBB：c.52A>T]和 Hb J-Lome[β59（E3）Lys>Asn，HBB：c.180G>C]的复合杂合子。D10、Capillarys 2 Flex Piercing（HbA1c 程序）和罗氏 Cobas c501 测定的 HbA1c 值分别为 2.3%、无 HbA1c 值和 5.1（32mmol/mol）。在系谱分析中，发现先证者的儿子血糖正常（5.55mmol/L），Arkray HA-8180V（48s HbA1c 模式）下的 HbA1c 降低（3.6%，16mmol/mol），Capillarys2 电泳图上出现异常条带（Hb 程序），以及β珠蛋白基因中的 Hb J-Lome 突变。随后，D10、Capillarys 2 Flex Piercing（HbA1c 程序）和罗氏 Cobas c501 测定的 HbA1c 值分别为 4.0%（20mmol/mol）、无 HbA1c 值和 5.0（31mmol/mol）。