Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India.

IF 0.6 4区医学 Q4 HEMATOLOGY

Indian Journal of Hematology and Blood Transfusion Pub Date : 2025-07-01 Epub Date: 2024-10-10 DOI:10.1007/s12288-024-01896-7

Ekta Jajodia, Ankit Jitani, Pritish Patra, Ayondyuti Bora, Jina Bhattacharyya, Spandan Chaudhary, Firoz Ahmad, Pooja Chaudhary, Jigarkumar V Suthar, Neeraj Arora

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引用次数: 0

Abstract

α-thalassemia is a lesser diagnosed form of hemoglobinopathy, mainly due to limited diagnostic tools available to confirm this entity. Molecular tests are commonly required to confirm the diagnosis, accessibility to which is difficult at times. There is profound phenotypic heterogeneity in different types of α-thalassemia, making it challenging to suspect the same. Subtle and easily overlooked clues in the hemoglobin electrophoresis or high performance liquid chromatography may be a pointer towards the diagnosis. Awareness about these subtle clues is paramount for diagnosis, as targeted next generation sequencing test done very commonly for unexplained haemolytic anemia may miss α-thalassemia as some of these panels may lack HBA1 and HBA2 genes. This series discuss four cases of Hemoglobin Koya Dora, a type of non-deletional α-thalassemia. The varying genotype and its association with clinical phenotype are briefly discussed.

Supplementary information: The online version contains supplementary material available at 10.1007/s12288-024-01896-7.

查看原文本刊更多论文

Hb Koya Dora：印度α地中海贫血的一种未被认识的变体。

α-地中海贫血是一种诊断较少的血红蛋白病，主要是由于可用的诊断工具有限。通常需要分子检测来确认诊断，但有时很难获得分子检测。不同类型α-地中海贫血存在深刻的表型异质性，这使得怀疑相同具有挑战性。在血红蛋白电泳或高效液相色谱中，细微而容易被忽视的线索可能是诊断的指针。了解这些细微的线索对于诊断是至关重要的，因为用于不明原因溶血性贫血的靶向下一代测序检测通常会遗漏α-地中海贫血，因为其中一些检测组可能缺乏HBA1和HBA2基因。本系列讨论了四例血红蛋白Koya Dora，一种非缺失型α-地中海贫血。简要讨论了不同的基因型及其与临床表型的关系。补充资料：在线版本包含补充资料，可在10.1007/s12288-024-01896-7获得。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Indian Journal of Hematology and Blood Transfusion HEMATOLOGY-

CiteScore

1.70

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Indian Journal of Hematology and Blood Transfusion is a medium for propagating and exchanging ideas within the medical community. It publishes peer-reviewed articles on a variety of aspects of clinical hematology, laboratory hematology and hemato-oncology. The journal exists to encourage scientific investigation in the study of blood in health and in disease; to promote and foster the exchange and diffusion of knowledge relating to blood and blood-forming tissues; and to provide a forum for discussion of hematological subjects on a national scale. The Journal is the official publication of The Indian Society of Hematology & Blood Transfusion.