血红蛋白α链变异Zara与家族性无症状低氧血症相关。

IF 1.3 Q4 HEMATOLOGY
Journal of hematology Pub Date : 2022-10-01 Epub Date: 2022-10-31 DOI:10.14740/jh1028
Anthony Pasquarella, Erin Miller, Edward C C Wong, Masamichi Ito, Marc J Braunstein
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引用次数: 0

摘要

许多血红蛋白(Hb)基因突变已被确定,导致从无症状携带者状态到复杂溶血性贫血的表型谱。我们报告一个罕见的病例无症状低氧血症的父亲和他的十几岁的女儿都被发现是Hb基因变异Zara的携带者。低氧血症的其他心血管原因的检查无显著性。对α -珠蛋白位点的进一步测序显示,两个人都是α -珠蛋白基因中意义未知的Hb Zara c.274C>A (p.Leu92Ile)变异的杂合。这是该Hb变异与家族性无症状低氧血症的首次文献关联,强调了在血氧饱和度降低的患者中评估血红蛋白病的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Hemoglobin Alpha Chain Variant Zara Associated With Familial Asymptomatic Hypoxemia.

Hemoglobin Alpha Chain Variant Zara Associated With Familial Asymptomatic Hypoxemia.

Hemoglobin Alpha Chain Variant Zara Associated With Familial Asymptomatic Hypoxemia.

Numerous hemoglobin (Hb) gene mutations have been identified, leading to a spectrum of phenotypes ranging from asymptomatic carrier states to complicated hemolytic anemias. We report a rare case of asymptomatic hypoxemia in a father and his teenage daughter both of whom were found to be carriers of Hb gene variant Zara. Workup for alternative cardiovascular causes of hypoxemia was unremarkable. Further sequencing of the alpha globin locus showed both individuals to be heterozygous for the Hb Zara c.274C>A (p.Leu92Ile) variant of unknown significance in the alpha2-globin gene. This is the first documented association of this Hb variant with familial asymptomatic hypoxemia, highlighting the importance of evaluating for hemoglobinopathies in patients with reduced oxygen saturation.

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Journal of hematology
Journal of hematology HEMATOLOGY-
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