Transcobalamin II deficiency
Related gene: TCN2
Inheritance pattern: Autosomal recessive
Transcobalamin II is a protein that transports vitamin B12 to the tissues of the gastrointestinal tract. A hereditary deficiency as a result of variants in the TCN2 gene is associated with anemia, failure to thrive, low white cell counts, and low serum antibody levels in infancy. It can be treated with B12 injections.