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上海嘉会国际医院检验科,上海 200233
Email:395804004@qq.com
Received:01 June 2026,
Revised:2026-06-30,
Online First:31 July 2026,
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时小媛,袁浩,方言等.一例镰状细胞特征合并纯合子α-地中海贫血伴缺铁性贫血的复杂血液学表型案例的分析[J].数智医学,
SHI xiaoyuan,YUAN hao,FANG yan,et al.Analysis of a Case with Complex Hematological Phenotype: Sickle Cell Trait Combined with Homozygous α-Thalassemia[J].Intelligent Digital Clinical Medicine,
时小媛,袁浩,方言等.一例镰状细胞特征合并纯合子α-地中海贫血伴缺铁性贫血的复杂血液学表型案例的分析[J].数智医学, DOI:10.65948/DICM20260601.0001.
SHI xiaoyuan,YUAN hao,FANG yan,et al.Analysis of a Case with Complex Hematological Phenotype: Sickle Cell Trait Combined with Homozygous α-Thalassemia[J].Intelligent Digital Clinical Medicine, DOI:10.65948/DICM20260601.0001.
患者,女性,33岁,有镰状细胞特征(sickle cell trait, SCT)贫血病史。2022年4月于上海嘉会国际医院心内科确诊卵圆孔未闭,2022年8月随访时查血常规提示贫血,无皮肤黏膜出血、呕血、黑便等消化道出血表现,遂转诊血液科进一步诊治。患者主诉既往反复出现右下肢肌肉疼痛,伴头晕、全身乏力症状。家族史:患者母系存在贫血病史,兄弟姐妹无贫血相关病史。实验室检查:血常规提示小细胞低色素性贫血,网织红细胞计数(Ret)1.21%;外周血涂片可见红细胞大小不均,其中镰状红细胞占4.00%,靶形红细胞占12.5%。铁代谢检查:血清铁蛋白(Fer)10 μg/L,血清铁(Fe)7.83μmol/L,血红蛋白区带电泳分析:镰状血红蛋白(HbS)27.00%、血红蛋白A₂ (HbA
2
)3.80%、血红蛋白 A(HbA)69.20%、胎儿血红蛋白(HbF)0.00%。遗传性血液病基因组检测提示β珠蛋白基因(HBB)基因CD6(GAG
>
GTG)杂合突变合并-α
3.7
纯合缺失。结合患者病史、家族史及各项辅助检查,最终诊断为SCT合并纯合子α-地中海贫血伴缺铁性贫血。临床采用蔗糖铁注射液规范静脉补铁治疗,定期监测血常规、Fer水平,规避铁过载的发生风险;同时,嘱患者规避剧烈运动、过度劳累,注意日常保暖。随访期间,患者缺铁性贫血被有效纠正,血红蛋白恢复至正常参考范围,外周血涂片镰状红细胞比例减低,靶形红细胞比例无明显变化,随访过程中未出现铁过载及溶血危象、血管闭塞等严重并发症,病情整体平稳。
A 33-year-old female with a history of sickle cell trait (sickle cell trait
SCT) presented anemia on routine blood test during follow-up at the Department of Cardiology
Shanghai Jiahui International Hospital in August 2022. She had no signs of mucocutaneous hemorrhage
hematemesis
melena or other gastrointestinal bleeding
and was subsequently referred to the Department of Hematology for further evaluation. The patient complained of recurrent right lower extremity muscle pain accompanied by dizziness and general fatigue. Family history: a maternal family history of anemia
while her siblings had no history of anemia. Laboratory examinations revealed microcytic hypochromic anemia with a reticulocyte (Ret) count of 1.21%. Peripheral blood smear showed anisocytosis
with sickled red blood cells accounting for 4.00% and target cells accounting for 12.5%. Iron metabolism tests: serum ferritin (Fer) 10 μg/L
serum iron (Fe) 7.83 μmol/L. Hemoglobin zone electrophoresis demonstrated hemoglobin S (HbS) 27.00%
hemoglobin A₂ (HbA₂) 3.80%
hemoglobin A (HbA) 69.20%
and hemoglobin F (HbF) 0.00%. Genomic testing for hereditary hematological diseases identified a heterozygous HBB gene CD6 (GAG>GTG) mutation combined with homozygous -α³·⁷ deletion. Based on the patient’s medical history
family history and laboratory findings
the final diagnosis was sickle cell trait complicated with homozygous α-thalassemia and iron deficiency anemia. The patient received standardized intravenous iron supplementation with iron sucrose injection. Complete blood count and serum ferritin were monitored regularly to prevent iron overload. The patient was advised to avoid strenuous exercise and overexertion and keep warm in daily life. During follow-up
iron deficiency anemia was effectively corrected
and hemoglobin returned to the normal reference range. The proportion of sickled red blood cells in peripheral blood smears decreased
whereas the proportion of target cells remained stable. No serious adverse events including iron overload
hemolytic crisis or vaso-occlusive complications were observed
and the patient’s condition remained stable overall.
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