网织红细胞血红蛋白含量在儿童地中海贫血诊断中的应用

doi:10.3969/j.issn.1673-8640.2026.01.008

摘要/Abstract

摘要：

目的探讨网织红细胞血红蛋白含量（Ret-He）在儿童地中海贫血（简称地贫）中的临床应用价值。方法选取2018年3月—2024年9月绵阳市第三人民医院300例未合并缺铁地贫患儿（TT0组）[α-地贫104例（A0组）、β-地贫188例（B0组）、α-地贫合并β-地贫8例]、110例合并缺铁地贫患儿（TT1组）[α-地贫40例（A1组）、β-地贫70例（B1组）]、90例缺铁性贫血（IDA）患儿（IDA组）和80名健康体检儿童（对照组）。收集所有研究对象地贫基因型和红细胞（RBC）计数、血红蛋白（Hb）、红细胞平均体积（MCV）、平均红细胞血红蛋白量（MCH）、平均红细胞血红蛋白浓度（MCHC）、网织红细胞百分比（RET%）、网织红细胞血红蛋白（Ret-He）及血清铁蛋白（SF）检测数据，比较各组相关指标的差异。采用受试者工作特征（ROC）曲线评估Ret-He诊断儿童地贫，以及鉴别诊断儿童IDA和地贫合并缺铁的效能。结果 410例地贫患儿中，α-地贫、β-地贫和α-地贫合并β-地贫检出率分别为37.56% 、60.49%和1.95%，α-地贫基因类型以--SEA为主（70.78%）。β-地贫基因类型以CD17为主（35.08%）。TT0组、TT1组、IDA组Hb、MCV、MCH、MCHC、RET-He、SF均低于对照组，RBC计数和RET%高于对照组（P<0.05）；TT0组和TT1组RBC计数、Hb、MCHC高于IDA组，MCV、MCH、Ret-He低于IDA组（P<0.05）；TT0组Hb、MCV、MCH、MCHC、SF高于TT1组（P<0.05）。A0组Hb、MCV、MCH、MCHC高于B0组和B1组，A0组MCV、MCH、MCHC高于A1组，A1和B1组MCHC低于B0组（P<0.05）。Ret-He诊断儿童地贫，以及鉴别儿童IDA和地贫合并缺铁的最佳临界值分别为28.1 pg、24.4 pg，敏感性分别为84.9%、80.0%，特异性分别为81.2%、70.0%，曲线下面积（AUC）分别为0.873、0.744。结论 Ret-He可作为儿童地贫的筛查指标，该指标对鉴别儿童IDA和地贫合并缺铁亦有重要临床价值。

关键词: 网织红细胞血红蛋白含量, 地中海贫血, 缺铁性贫血, 儿童

Abstract:

Objective To investigate the clinical application role of reticulocyte hemoglobin content（Ret-He）in children with thalassemia. Methods From March 2018 to September 2024，300 children without iron deficiency thalassemia（TT0 group）[104 cases of α-thalassemia（A0 group），188 cases of β-thalassemia（B0 group）and 8 cases of α-+β-thalassemia]，110 children with iron deficiency thalassemia （TT1 group） [40 cases of α-thalassemia（A1 group）and 70 cases of β-thalassemia（B1 group）]，90 children with iron deficiency anemia（IDA）（IDA group）and 80 healthy subjects（control group）were enrolled from the Third Hospital of Mianyang. The data on thalassemia genotypes and red blood cell（RBC）count，hemoglobin（Hb），mean corpuscular volume（MCV），mean corpuscular hemoglobin（MCH），mean corpuscular hemoglobin concentration（MCHC），the percentages of reticulocytes（RET%），Ret-He and serum ferritin（SF）determination results were collected. The differences in related indicators among the groups were compared. Receiver operating characteristic（ROC）curve was used to evaluate the efficacy of Ret-He in diagnosing thalassemia in children and differentiating thalassemia with iron deficiency. Results Among the 410 children with thalassemia，the determination rates of α-，β- and α-+β-thalassemia were 37.56%，60.49% and 1.95%，respectively，and the main types of α- and β-thalassemia were --SEA（70.78%）and CD17（35.08%），respectively. The levels of Hb，MCV，MCH，MCHC，Ret-He and SF in TT0 group，TT1 group and IDA group were lower than those in control group，while RBC count and RET% were higher than those in control group（P<0.05）. The levels of RBC count，Hb and MCHC in TT0 group and TT1 group were higher than those in IDA group，while MCV，MCH and Ret-He were lower than those in IDA group（P<0.05）. The levels of Hb，MCV，MCH and MCHC in A0 group were higher than those in B0 group and B1 group，and the levels of MCV，MCH and MCHC in A0 group were higher than those in A1 group. The levels of MCHC in A1 and B1 groups were lower than that in B0 group（P<0.05）. The optimal cut-off values of Ret-He for diagnosing thalassemia in children and differentiating IDA from thalassemia with iron deficiency were 28.1 pg and 24.4 pg，respectively，with the sensitivities of 84.9% and 80.0%，the specificities of 81.2% and 70.0%，and the areas under curves（AUC）of 0.873 and 0.744，respectively. Conclusions Ret-He can be used as a screening indicator for thalassemia in children，and it also plays a role in differentiating IDA from thalassemia with iron deficiency in children.

Key words: Reticulocyte hemoglobin content, Thalassemia, Iron deficiency anemia, Children

中图分类号:

R446.11

王冰, 杨渝伟, 刘俊梅, 李艳秋, 彭碧. 网织红细胞血红蛋白含量在儿童地中海贫血诊断中的应用[J]. 检验医学, 2026, 41(1): 47-51.

WANG Bing, YANG Yuwei, LIU Junmei, LI Yanqiu, PENG Bi. Application of reticulocyte hemoglobin content in diagnosing thalassemia in children[J]. Laboratory Medicine, 2026, 41(1): 47-51.

图/表 5

参考文献 19

[1]	刘勇, 林晓英, 黄燕, 等. MCV、MCH、RBC脆性和HbA2在广东地区α-地中海贫血筛查中的价值[J]. 中国实验血液学杂志, 2020, 28(5):1679-1682.
[2]	URRECHAGA E, BORQUE L, ESCANERO J F. Erythrocyte and reticulocyte indices in the assessment of erythropoiesis activity and iron availability[J]. Int J Lab Hematol, 2013, 35(2):144-149. DOI PMID
[3]	袁秋蓉, 牛诗琼, 林雪萍, 等. RBC、Ret-He与HbA2联合检测对地中海贫血的临床价值[J]. 中国实验血液学杂志, 2021, 29(1):203-206.
[4]	彭碧, 马永能, 杨渝伟, 等. 网织红细胞血红蛋白含量对轻型地中海贫血患者妊娠期铁缺乏状态的应用评价[J]. 检验医学, 2020, 35(1):20-24.
[5]	刘佳丽, 王薇, 何法霖, 等. 全国110家妇幼保健院及儿童医院检验科儿童全血细胞计数参考区间调查与分析[J]. 中华检验医学杂志, 2019, 42(4):277-281.
[6]	曹科, 马东礼, 罗小娟, 等. 全自动血细胞分析流水线网织红细胞参数参考区间在儿科实验室适用性验证[J]. 检验医学与临床, 2016, 13(2):184-185.
[7]	《中华儿科杂志》编辑委员会, 中华医学会儿科学分会血液学组,中华医学会儿科学分会儿童保健学组. 儿童缺铁和缺铁性贫血防治建议[J]. 中华儿科杂志, 2008, 46(7):502-504.
[8]	ZHUANG J, JIANG Y, CHEN Y, et al. Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population[J]. Mol Genet Genomic Med, 2024, 12(1):e2365. DOI URL
[9]	KADEGASEM P, SONGDEJ D, LERTTHAMMAKIAT S, et al. Reticulocyte hemoglobin equivalent in a thalassemia-prevalent area[J]. Pediatr Int, 2019, 61(3):240-245. DOI PMID
[10]	欧容, 陈红霞, 余林, 等. 重庆地区地中海贫血患儿的临床分析[J]. 中国实验血液学杂志, 2024, 32(1):214-218.
[11]	唐燕, 李佳熹, 郭远林, 等. 成都市北城地区0-18岁珠蛋白生成障碍性贫血患儿的基因突变类型及频率分析[J]. 检验医学与临床, 2023, 20(14):2122-2124.
[12]	LOU J W, SUN M N, MAO A P, et al. Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province,Southern China[J]. Clin Chim Acta, 2023, 551:117622. DOI URL
[13]	李东明, 黄秀宁, 赵桓, 等. 中国广西崇左地区育龄人群地中海贫血基因突变类型的分析[J]. 中国实验血液学杂志, 2023, 31(6):1804-1810.
[14]	LIAN Y, SHI J, NIE N, et al. Reticulocyte hemoglobin equivalent(Ret-He)combined with red blood cell distribution width has a differentially diagnostic value for thalassemias[J]. Hemoglobin, 2019, 43(4):229-235. DOI URL
[15]	贾连玲, 欧红玲, 王欢, 等. 网织红细胞新参数对贫血性疾病的诊断价值[J]. 国际检验医学杂志, 2021, 42(13):1563-1566.
[16]	崔丽娟. MCV、RDW、MCH及网织红细胞参数在小儿地中海贫血与缺铁性贫血鉴别诊断中的应用分析[J]. 现代诊断与治疗, 2020, 31(23):3817-3819.
[17]	NAKASHIMA M. Utility of Ret-He for determining cause of microcytosis in suspected hemoglobinopathy/thalassemia patients[J]. Int J Lab Hematol, 2016, 38(6):79.
[18]	CHINUDOMWONG P, BINYASING A, TRONGSAKUL R, et al. Diagnostic performance of reticulocyte hemoglobin equivalent in assessing the iron status[J]. J Clin Lab Anal, 2020, 34(6):e23225. DOI URL
[19]	KADEGASEM P, SONGDEJ D, LERTTHAMMAKIAT S, et al. Reticulocyte hemoglobin equivalent in a thalassemia-prevalent area[J]. Pediatr Int, 2019, 61(3):240-245. DOI PMID

基因类型	例数	构成比/%
α-地贫	154	100.00
--SEA/αα	109	70.78
-α3.7/αα	27	17.53
-α4.2/αα	12	7.79
αCSα/αα	3	1.95
--SEA/-α4.2	3	1.95
β-地贫	248	100.00
CD17/βN	87	35.08
CD41-42/βN	64	25.81
IVS-Ⅱ-654/βN	55	22.18
βEM/βN	9	3.63
CD43/βN	9	3.63
CD27-28/βN	8	3.22
CD71-72/βN	7	2.82
Int/βN	6	2.42
CD41-42/CD71-72	3	1.21
α-地贫合并β-地贫	8	100.00
-α3.7/αα；CD17/βN	4	50.00
-α3.7/αα；IVS-Ⅱ-654/βN	3	37.50
-α4.2/αα；CD41-42/βN	1	12.50

基因类型	例数	构成比/%
α-地贫	154	100.00
--SEA/αα	109	70.78
-α3.7/αα	27	17.53
-α4.2/αα	12	7.79
αCSα/αα	3	1.95
--SEA/-α4.2	3	1.95
β-地贫	248	100.00
CD17/βN	87	35.08
CD41-42/βN	64	25.81
IVS-Ⅱ-654/βN	55	22.18
βEM/βN	9	3.63
CD43/βN	9	3.63
CD27-28/βN	8	3.22
CD71-72/βN	7	2.82
Int/βN	6	2.42
CD41-42/CD71-72	3	1.21
α-地贫合并β-地贫	8	100.00
-α3.7/αα；CD17/βN	4	50.00
-α3.7/αα；IVS-Ⅱ-654/βN	3	37.50
-α4.2/αα；CD41-42/βN	1	12.50

指标	例数	RBC计数/（×1012L^-1）	Hb/（g·L^-1）	MCV/fL	MCH/pg
TT0组	300	5.31±0.86	107.81±13.81	65.35±7.92	20.82±3.29
TT1组	110	5.25±0.60	103.38±11.13*	62.35±5.30*	19.62±2.04*
IDA组	90	4.82±0.70*#	89.69±16.13*#	70.17±6.8*#	22.74±2.76*#
对照组	80	4.32±0.44*#∆	119.55±6.93*#∆	83.09±6.41*#∆	28.30±2.66*#∆
F值		40.568	78.745	150.147	156.494
P值		<0.001	<0.001	<0.001	<0.001
指标	MCHC/（g·L^-1）		RET%/%	Ret-He/pg	SF/（μg·L^-1）
TT0组	316.20±17.21		1.92±0.75	22.46±3.93	38.36±19.33
TT1组	309.05±16.22*		2.02±0.79	21.98±3.08	7.24±3.07*
IDA组	292.72±17.54*#		1.83±0.74	26.33±5.90*#	8.42±4.65*
对照组	340.94±15.02*#∆		1.24±0.40*#∆	33.15±2.93*#∆	50.56±19.33*#∆
F值	120.628		21.087	87.714	181.424
P值	<0.001		<0.001	<0.001	<0.001

指标	例数	RBC计数/（×1012L^-1）	Hb/（g·L^-1）	MCV/fL	MCH/pg
TT0组	300	5.31±0.86	107.81±13.81	65.35±7.92	20.82±3.29
TT1组	110	5.25±0.60	103.38±11.13*	62.35±5.30*	19.62±2.04*
IDA组	90	4.82±0.70*#	89.69±16.13*#	70.17±6.8*#	22.74±2.76*#
对照组	80	4.32±0.44*#∆	119.55±6.93*#∆	83.09±6.41*#∆	28.30±2.66*#∆
F值		40.568	78.745	150.147	156.494
P值		<0.001	<0.001	<0.001	<0.001
指标	MCHC/（g·L^-1）		RET%/%	Ret-He/pg	SF/（μg·L^-1）
TT0组	316.20±17.21		1.92±0.75	22.46±3.93	38.36±19.33
TT1组	309.05±16.22*		2.02±0.79	21.98±3.08	7.24±3.07*
IDA组	292.72±17.54*#		1.83±0.74	26.33±5.90*#	8.42±4.65*
对照组	340.94±15.02*#∆		1.24±0.40*#∆	33.15±2.93*#∆	50.56±19.33*#∆
F值	120.628		21.087	87.714	181.424
P值	<0.001		<0.001	<0.001	<0.001

指标	例数	RBC计数/ （×1012L^-1）	Hb/ （g·L^-1）	MCV/ fL	MCH/ pg	MCHC/ （g·L^-1）	RET%/ %	Ret-He/ pg
A0组	104	5.23±0.93	111.57±13.34	68.25±7.31	21.68±2.66	314.06±15.44	1.90±0.77	22.98±3.97
B0组	188	5.34±0.81	105.67±13.67*	63.25±6.89*	20.12±3.00*	307.80±10.18*	1.92±0.75	22.15±3.89
A1组	40	5.45±0.36	107.47±12.26	64.05±6.37*	19.34±2.05*	300.63±16.44*#	1.97±0.84	21.96±3.66
B1组	70	5.17±0.65	101.38±9.49*	61.29±4.32*	19.68±2.00*	300.52±7.61*#	2.07±0.76	21.93±2.78
F值		7.618	32.068	24.437	20.324	30.295	0.855	15.887
P值		<0.001	<0.001	<0.001	<0.001	<0.001	0.491	<0.001