一个特殊溶血性贫血病例的特征和临床评估

IF 1.3 Q4 HEMATOLOGY
Journal of hematology Pub Date : 2024-06-01 Epub Date: 2024-06-28 DOI:10.14740/jh1204
Fulvio Castelgrande, Gemma Viola, Cinzia Calabrese, Mariannina Iozzo, Renato Massoud, Massimo Pieri, Marilena Minieri, Gaspare Adorno, Sergio Bernardini, Alessandro Terrinoni
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引用次数: 0

摘要

地中海贫血症的特征是由于基因突变导致血红蛋白(Hb)的球蛋白链合成减少(β+)或缺失(β0)。地中海贫血症多发于地中海地区,但现在已遍布全球。可分为三种可能的遗传形式:β0/β0,最严重(库利病);β0/β+,中等严重程度;β+/β+,伴有中型或轻型β地中海贫血。最近,有人提出了一种非遗传的临床分类:输血依赖型地中海贫血(TDT),需要终生定期输血;非输血依赖型地中海贫血(NTDT),需要偶尔输血来处理急性病例。在本报告中,我们对一名患者进行了研究,该患者的血细胞计数显示为重度贫血,同时还显示血小板增多、白细胞增多和有核红细胞(NRBC)数量升高。这些血液参数的变化最初提示可能诊断为血红蛋白病或骨髓增生综合征。分子和遗传学分析表明,患者体内存在 HbF(5.3%)和 HbA2(7.7%),β-球蛋白基因存在同源突变(IVS1.6T>C)。根据这些数据,建议诊断为中间型β地中海贫血。然而,由于临床症状、血小板增多、白细胞增多、无红细胞增多以及频繁输血,该患者被重新归类为 TDT 患者。因此,这一结果表明,由于其他并发病症可能会加重病情,因此在存在β+突变的情况下,基因型与表型之间不可能存在独特的相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Characterization and Clinical Assessment of a Peculiar Case of Hemolytic Anemia.

Thalassemic diseases are characterized by a reduced (β+) or absent (β0) synthesis of the globin chains of hemoglobin (Hb) due to genetic mutations. β-thalassemia was more frequent in the Mediterranean area, but now it is diffused worldwide. Three possible genetic forms can be distinguished: β00, the most severe (Cooley's disease); β0+ of intermediate severity; β++ associated with β-thalassemia intermedia or minor. Recently, a clinical non-genetic classification has been proposed: transfusion-dependent thalassemia (TDT), requiring regular lifetime blood transfusions, and non-transfusion-dependent thalassemia (NTDT), requiring occasional transfusions to manage acute cases. In this report, we studied a patient whose blood count indicated a severe anemia but also showed thrombocytosis, leukocytosis, and an elevated number of nucleated red blood cells (NRBC). These altered blood parameters suggested initially a possible diagnosis of hemoglobinopathy or myeloproliferative syndrome. The molecular and genetic analyses demonstrated the presence of HbF (5.3%) and HbA2 (7.7%) and the presence of the homozygote mutation (IVS1.6T>C) in the β-globin gene. According to these data, a diagnosis of β-thalassemia intermedia form has been proposed. Nevertheless, the clinical condition, the presence of thrombocytosis, leukocytosis, an elevated number of NRBC, and the frequent blood transfusions lead to reclassification of the patient as TDT subject. Consequently, this result suggests that a unique genotype-phenotype correlation is not possible in the presence of β+mutations since other concomitant pathologies can exacerbate the disease.

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Journal of hematology
Journal of hematology HEMATOLOGY-
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