造血干细胞移植成功治疗血红蛋白哈默史密斯患儿。

IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Hemoglobin Pub Date : 2023-11-01 Epub Date: 2023-08-22 DOI:10.1080/03630269.2023.2219007
Ayşen Türedi Yıldırım, Hüseyin Gülen, Hülya Türkmen, Gülcihan Özek, Yeşim Oymak, Burak Durmaz, Emin Karaca
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引用次数: 0

摘要

血红蛋白(Hb)Hammersmith是一种非常罕见的低氧亲和力不稳定血红蛋白变体,由β-珠蛋白链42残基的苯丙氨酸被丝氨酸取代而形成。对于血红蛋白病患者,造血干细胞移植是一种完全治愈的方法,但关于其对Hb Hammersmith患者作用的文献有限。对一名7个月大的女孩进行了贫血和脾肿大检查,并对其进行了先天性溶血性贫血的随访。通过DNA序列分析,该患者的嘴唇明显发绀,其p50血气较低,被诊断为Hb Hammersmith。在随访期间,由于感染加重了贫血,不得不频繁输血。在成功从HLA匹配的兄弟姐妹身上移植造血干细胞后,患者从Hb Hammersmith中完全康复。这个案子之所以被提起是因为它很罕见。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Successful Treatment of a Child with Hemoglobin Hammersmith with Hematopoietic Stem Cell Transplantation.

Hemoglobin (Hb) Hammersmith, formed by serine substitution for phenylalanine at residue 42 in the beta-globin chain, is a very rare variant of unstable hemoglobin with low oxygen affinity. For patients with hemoglobinopathies, it is well-established that hematopoietic stem cell transplantation provides a complete cure, but the literature on its role for those with Hb Hammersmith is limited. A seven-month-old girl who was examined for anemia and splenomegaly was followed up for congenital hemolytic anemia. The patient with visible cyanosis of the lips and whose p50 was low in blood gas was diagnosed with Hb Hammersmith through the DNA sequence analysis. During the follow-up, frequent blood transfusions had to be given due to anemia aggravated by infections. Following a successful hematopoietic stem cell transplant from an HLA-matched sibling, the patient completely recovered from Hb Hammersmith. The case is presented because of its rarity.

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来源期刊
Hemoglobin
Hemoglobin 医学-生化与分子生物学
CiteScore
1.70
自引率
10.00%
发文量
59
审稿时长
3 months
期刊介绍: Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders
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