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Article

Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes.

British journal of haematology - 1 Sept 2022

Songdej Duantida, Kadegasem Praguywan, Tangbubpha Noppawan, Sasanakul Werasak, Deelertthaweesap Bhurichaya, Chuansumrit Ampaiwan, Sirachainan Nongnuch

Abstract excerpt

Next-generation sequencing has shed light on the diagnosis of previously unsolved cases of inherited haemolytic anaemia (IHA). We employed whole-exome sequencing to explore the molecular diagnostic spectrum of 21 unrelated Thai paediatric patients with non-thalassemic IHA, presenting hydrops fetalis and/or becoming transfusion-dependent for 1 year or more or throughout their lifespan. Anaemia was detected...

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Share to Anemia, Hemolytic, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35819869
DOI: 10.1111/bjh.18356

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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