Benign clinical phenotype of co-inherited congenital dyserythropoietic anaemia type I and heterozygous haemoglobin Lepore

Eur J Haematol. 2023 Jul;111(1):161-164. doi: 10.1111/ejh.13974. Epub 2023 Apr 10.

Authors

Eric Wenlong Li^{1

2}, Rebecca Walsh³, P Joy Ho^{1

2}

Affiliations

¹ Institute of Haematology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.
² Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.
³ Randwick Genetics Laboratory, NSW Health Pathology, Randwick, New South Wales, Australia.

PMID: 37037770
DOI: 10.1111/ejh.13974

No abstract available

Keywords: bioinformatics; hemoglobinopathy; inherited anaemia; molecular genetics; next-generation sequencing; whole exome sequencing.

Publication types

Case Reports

MeSH terms

Anemia, Dyserythropoietic, Congenital* / diagnosis
Anemia, Dyserythropoietic, Congenital* / genetics
Anemia, Dyserythropoietic, Congenital* / therapy
Hemoglobins, Abnormal* / genetics
Heterozygote
Humans
Phenotype

Substances

hemoglobin Lepore
Hemoglobins, Abnormal