Studies on familial hypotransferrinemia: unique clinical course and molecular pathology.

@article{Hayashi1993StudiesOF,
  title={Studies on familial hypotransferrinemia: unique clinical course and molecular pathology.},
  author={Akira Hayashi and Yui Wada and Tamio Suzuki and Akira Shimizu},
  journal={American journal of human genetics},
  year={1993},
  volume={53 1},
  pages={201-13}
}
Some unsolved problems--late onset of anemia and growth retardation (at age 7 years), healthy siblings showing very low transferrin (TF) level, and unexplained mode of inheritance--were found in family members of a congenital atransferrinemia already reported in 1972. The long-term clinical, laboratory, and developmental observations revealed that after 5 years of apo-TF supplementary therapy the patient's anemia gradually disappeared, and he started to grow again without further therapy… CONTINUE READING
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