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Transcobalamin II deficiency: Case report and review of the literature


A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively reviewed, and the importance of early diagnosis to prevent neurological dysfunction is stressed.

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Transcobalamin II


unsaturated serum cobalamin binding capacity


  1. Arrabal MC, Villegas A, Mariscal E, Lentijo B, Luck B, Hoffbrand AV (1988) Transcobalamin II deficiency. Acta Haematol 80:162–166

    PubMed  Google Scholar 

  2. Arwert F, Porck HJ, Frater-Schroder M, Brahe C, Geurts van Kessel A, Westerveld A, Meera Khan P, Zang K, Frants RR, Korbeek HT, Eriksson AW (1986) Assignment of human transcobalamin II (TCII) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells. Hum Genet 73:378–381

    Article  Google Scholar 

  3. Burman JF, Mollin DL, Sourial NA, Sladden RA (1979) Inherited lack of transcobalamin II in the serum and megaloblastic anemia; a further patient. Br J Haematol 43:27–38

    PubMed  Google Scholar 

  4. Carmel R (1986) Transcobalamin II deficiency and oral cobalamin therapy. Blood 67,5:1522

    Google Scholar 

  5. Carmel R, Rovindranath Y (1984) Congenital transcobalamin II deficiency presenting atypically with a low serum cobalamin level. Studies demonstrating the coexistence of a circulating transcobalamin I (R binder) complex Blood 63,3:598–605

    Google Scholar 

  6. Frater-Schroder M (1983) Genetic patterns of transcobalamin II and the relationships with congenital defects. Mol Cell Biochem 56:5–31

    PubMed  Google Scholar 

  7. Hakami N, Neiman PE, Canellos GP, Lazerson J (1971) Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. N Eng J Med 285:1163–1170

    Google Scholar 

  8. Hall CA (1981) Congenital disorders of vitamin B12 transport and their contribution to concept II. Yale Biol Med 54:485–495

    Google Scholar 

  9. Haurani FI, Hall CA, Rubin R (1979) Megaloblastic anemia as a result of an abnormal transcobalamin II (Cardeza). J Clin Invest 64:1253–1259

    PubMed  Google Scholar 

  10. Hitzig WH, Kenny AB (1975) The role of vitamin B12 and its transport globulins in the production of antibodies. Clin Exp Immunol 20:105–111

    PubMed  Google Scholar 

  11. Hitzig WH, Dohmann U, Pluss HJ, Vischer D (1974) Hereditary transcobalamin II deficiency: clinical findings in a new family. J Pediatrics 85:622–628

    Google Scholar 

  12. Hoffbrand AV, Tripp E, Jackson BFA, Luck WE (1984) Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency. N Eng J Med 310:789–790

    Google Scholar 

  13. Jacob E, Herbert V (1975) Measurements of unsaturated “granulocyte-related” (TCI and TCII) and “liver related” (TCII) B12 binders by instant batch separation using a microfine precipitate of silica (QUSO G32). J Lab Clin Med 86:505–512

    PubMed  Google Scholar 

  14. Jacob E, Baker SJ, Herbert V (1980) Vitamin B12 binding proteins. Physiol Rev 60:918–960

    PubMed  Google Scholar 

  15. Kanazama S, Herbert V, Herzlick B, Drivas A, Manusselis C (1983) Removal of cobalamin analogue in bile by enterohepatic circulation of vitamin B12. Lancet I:702–708

    Google Scholar 

  16. Meyers PA, Carmel R (1984) Hereditary transcobalamin II deficiency with subnormal serum cobalamin levels. Pediatrics 24,5:866–871

    Google Scholar 

  17. Niebrugge SJ, Benjamin DR, Christie D, Scott CR (1982) Hereditary transcobalamin II deficiency presenting as red cell hypoplasia. J Pediatrics 101:732–735

    Google Scholar 

  18. Rana SR, Colman N, Goh KA, Herbert V, Klemperer MR (1983) Transcobalamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities. Am J Hematol 14:89–96

    PubMed  Google Scholar 

  19. Savage CR, Begley JA, Hall CA (1977) Radioimmunoassay for serum transcobalamin II. J Lab Clin Med 89:645–652

    PubMed  Google Scholar 

  20. Seligman PA, Steiner LL, Allen RH (1980) Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. N Engl J Med 303:1209–1213

    PubMed  Google Scholar 

  21. Thomas PD, Hoffbrand AV, Smith IS (1982) Neurologic involvement in hereditary transcobalamin II deficiency. J Neurol Neurosurg Psychiatry 45:74–77

    PubMed  Google Scholar 

  22. Zeitlin HC, Sheppard K, Baum JD, Bolton FG, Hall CA (1985) Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. Blood 66,5:1022–1027

    Google Scholar 

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Kaikov, Y., Wadsworth, L.D., Hall, C.A. et al. Transcobalamin II deficiency: Case report and review of the literature. Eur J Pediatr 150, 841–843 (1991).

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Key words

  • Transcobalamin II deficiency
  • Macrocytic anaemia
  • Failure to thrive