Published online Feb 20, 2002.
https://doi.org/10.3349/ymj.1967.8.1.71
Juvenile Pernicious Anemia in Sisters
Abstract
Two cases of juvenile pernicious anemia in Korean sisters have been followed for 4 years since 7 years and 4 years of age respectively. The symptoms and signs were pale facies, general malaise, sore tongue, anorexia, frequent febrile episodes, macrocytic hyperchromic anemia, thrombocytopenia, multilobulated leucocytes with more than 6 lobules and megaloblastic proliferation in bone marrow aspiration. Dramatic hematological response to the parenteral administration of vitamin B12 with a significantly increased excretion rate of vitamin Bl2 by Schilling test as shown by an increase from 0 to 11.6% in elder sister and from 0 to 5.6% in younger sister with the addition of commercial intrinsic factor were demonstrated.
These findings are compatible with the characteristics of juvenile pernicious anemia resulting from defect of Cast1e's intrinsic factor.