ArticleTransfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie2022
Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child.
Article in Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 3 citations in OpenAlex.
- Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.Journal of Korean medical science · 2024Review
- Transcript-specific induction of stop codon readthrough using a CRISPR-dCas13 system.EMBO reports · 2024Article
- Cell-Free DNA and Next-Generation Sequencing for Prenatal Diagnosis.Methods in molecular biology (Clifton, N.J.) · 2024Article
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6 authors at 2 institutions in 1 country.
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Abstract
Inborn hemolytic anemia requiring frequent blood transfusions can be a life-threatening disease. Treatment, besides blood transfusion, includes iron chelation for prevention of iron accumulation due to frequent blood transfusions. We present the results of a clinical investigation where the proband was diagnosed with severe hemolytic anemia of unknown origin soon after birth. Transfusion was required every 4-6 weeks. After whole exome sequencing of the proband and his parents as well as a healthy sibling, we established that the proband had a compound heterozygous state carrying two rare variants in the erythrocytic spectrin gene,
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