Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review
| Autor: | Vip Viprakasit, Pimlak Charoenkwan, Chupong Ittiwut, Vorasuk Shotelersuk, Wanna Chetruengchai, Arunee Phusua, Kanda Fanhchaksai, Monthana Juntharaniyom, Chureerat Phokaew, Tanu Tangsricharoen, Rungrote Natesirinilkul |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Anemia Hemolytic Heterozygote Adolescent Kruppel-Like Transcription Factors KLF1 medicine.disease_cause Compound heterozygosity Young Adult Genotype medicine Humans Point Mutation Allele Child Mean corpuscular volume Mutation medicine.diagnostic_test business.industry Infant Newborn Infant Hematology Pedigree Red blood cell medicine.anatomical_structure Child Preschool Immunology Erythropoiesis Female business |
| Zdroj: | British Journal of Haematology. 194:626-634 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/bjh.17616 |
| Popis: | Mutations in the KLF1 gene, which encodes a transcription factor playing a role in erythropoiesis, have recently been demonstrated to be a rare cause of hereditary haemolytic anaemia. We described the genotypic and phenotypic spectra of four unrelated families with compound heterozygous class 2/class 3 KLF1 mutations. All patients had p.G176RfsX179 on one allele and either p.A298P, p.R301H or p.G335R on the other allele. All presented on the first day of life with severe haemolytic anaemia with abnormal red blood cell morphology, markedly increased nucleated red blood cells and hyperbilirubinaemia. Three patients later became transfusion-dependent. All parents with heterozygous KLF1 mutation without co-inherited thalassaemia had normal to borderline mean corpuscular volume (MCV) and normal to slightly elevated Hb F. Fifteen previously reported cases of biallelic KLF1 mutations were identified from a literature review. All except one presented with severe haemolytic anaemia in the neonatal period. Our finding substantiates that compound heterozygous KLF1 mutations are associated with severe neonatal haemolytic anaemia and expands the haematologic phenotypic spectrum. In carriers, the previously suggested findings of low MCV, high Hb A2 and high Hb F are inconsistent; thus this necessitates molecular studies for the identification of carriers. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text