新生儿血红蛋白病诊断的挑战与困难:1例

IF 0.4 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Annales de biologie clinique Pub Date : 2022-09-01 DOI:10.1684/abc.2022.1746

Pauline Condom, Marie-Pierre Castex, Frédérique Dubois

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引用次数: 0

摘要

血红蛋白病的诊断是基于一系列的论点:临床，血球计数的结果，血红蛋白的研究和可能的基因研究的球蛋白链。这些特征的解释可能很复杂，特别是在新生儿中，由于珠蛋白基因的个体发生。临床影响可从单纯的无贫血的小细胞增多到需要反复输血的严重贫血，并根据产生的链的数量和类型出现各种临床症状。血红蛋白病理学的知识仍然是必要的，因为这些异常可能传递和组合到后代。

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Challenge and difficulty of diagnosing hemoglobinopathies in newborns: about a case

The diagnosis of hemoglobinopathy is based on a range of arguments: clinic, results of a blood count, the haemoglobin study and possibly a genetic study of the globin chains. The interpretation of these profiles can be complicated, especially in newborns due to the ontogenesis of globin genes. The clinical impact can range from simple microcytosis without anemia to severe anemia requiring iterative transfusions and various clinical symptoms depending on the number and type of chains produced. Knowledge of a hemoglobin pathology remains essential because of the possible transmission and combination of these anomalies to offspring.

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来源期刊

Annales de biologie clinique 医学-医学：研究与实验

CiteScore

0.80

自引率

20.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Multidisciplinary information with direct relevance to everyday practice Annales de Biologie Clinique, the official journal of the French Society of Clinical Biology (SFBC), supports biologists in areas including continuing education, laboratory accreditation and technique validation. With original articles, abstracts and accounts of everyday practice, the journal provides details of advances in knowledge, techniques and equipment, as well as a forum for discussion open to the entire community.