Yonsei Med J.  1967 Dec;8(1):71-76. 10.3349/ymj.1967.8.1.71.

Juvenile Pernicious Anemia in Sisters

• Yun DJ
• Lee H
• Chun GP
• Lee KY

• KMID: 1106115
• DOI: http://doi.org/10.3349/ymj.1967.8.1.71

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.

MeSH Terms

Anemia, Pernicious/*genetics
Child
Female
Human
Vitamin B 12/*therapeutic use