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Fig. 1 | BMC Pediatrics

Fig. 1

From: A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

Fig. 1

A Chest x-ray showing bilateral reticulonodular infiltration and hepatomegaly, B Peripheral blood smear (1000x) showing macro-ovalocytes (black arrow), variable-sized red blood cells as well as fragmented cell (red arrow), and hypersegmented neutrophils (green arrow). These findings give credence to megaloblastic anemia. C Bone marrow smear with Wright-Giemsa stain (1000x) showing megaloblastic change, large erythroblast (black arrow), nuclear and cytoplasmic maturational asynchrony of erythroid precursors (yellow arrow), dysplastic nuclei of erythroid precursors (green arrow), and giant band (red arrow). D Sanger sequencing, noted homozygous change from A to G at nucleotide c.428–2, and heterozygous A > G in the father (and mother: not shown). E mRNA (cDNA) bands showing only aberrant mRNA in the patient’s specimen (PT) and only wild type band in the normal control (NL). F mRNA sequencing demonstrating exon 4 skipping: coding sequence of exon 3 followed by the coding sequence of exon 5

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BMC Pediatrics

ISSN: 1471-2431

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