This is the first reported case describing the clinical and laboratory features of a patient with co-inherited heterozygous haemoglobin Lepore and a congenital dyserythropoietic anaemia. Furthermore, we report a novel… Click to show full abstract
This is the first reported case describing the clinical and laboratory features of a patient with co-inherited heterozygous haemoglobin Lepore and a congenital dyserythropoietic anaemia. Furthermore, we report a novel biallelic mutation in the CDAN1 gene identified using next-generation sequencing.
Keywords:
heterozygous haemoglobin;
congenital dyserythropoietic;
dyserythropoietic anaemia;
haemoglobin lepore
Journal Title: European journal of haematology
Year Published: 2023
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Journal Title: European journal of haematology
Year Published: 2023
Link to full text (if available)
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