Pediatr Blood Cancer 2021 Jun 12:e29181. Epub 2021 Jun 12.
Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Front Physiol 2021 21;12:685242. Epub 2021 Jun 21.
Molecular Pediatric Hematology Laboratory, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Congenital dyserythropoietic anemia type I (CDA I) is an autosomal recessive disease characterized by moderate to severe macrocytic anemia and pathognomonic morphologic abnormalities of the erythroid precursors, including spongy heterochromatin. The disease is mainly caused by mutations in (encoding for Codanin-1). No patients with homozygous null type mutations have been described, and mouse null mutants die during early embryogenesis prior to the initiation of erythropoiesis. Read More
Br J Haematol 2021 Jun 17;193(6):1185-1193. Epub 2021 May 17.
Department of Paediatric Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
The diagnostic evaluation of Diamond Blackfan Anaemia (DBA), an inherited bone marrow failure syndrome characterised by erythroid hypoplasia, is challenging because of a broad phenotypic variability and the lack of functional screening tests. In this study, we explored the potential of untargeted metabolomics to diagnose DBA. In dried blood spot samples from 18 DBA patients and 40 healthy controls, a total of 1752 unique metabolite features were identified. Read More
Int J Hematol 2021 Apr 29. Epub 2021 Apr 29.
Department of Hematology, Affiliated Zhongshan Hospital, Sun Yat-Sen University, No. 2 Sun-wen Dong Road, Zhongshan, 528403, China.
Congenital dyserythropoietic anemia type II (CDA II), a rare genetic disorder, results from SEC23B gene mutations according to previous studies. Here, we present a case of CDA II involving two novel pathogenic mutations of SEC23B that have not previously been reported. The patient suffered from jaundice, tea-colored urine, and weakness. Read More
Int J Mol Sci 2021 Mar 12;22(6). Epub 2021 Mar 12.
Center for Advanced Stem Cell and Regenerative Research, Tohoku University Graduate School of Dentistry, Sendai 980-8575, Japan.
Lipin2 is a phosphatidate phosphatase that plays critical roles in fat homeostasis. Alterations in , which encodes lipin2, cause the autoinflammatory bone disorder Majeed syndrome. Lipin2 limits lipopolysaccharide (LPS)-induced inflammatory responses in macrophages. Read More