Article
Hb Yokohama [beta 31 (B13)Leu----Pro] detected as a de novo mutation in a Yugoslavian boy.
Hemoglobin - 1 Jan 1991
Plaseska D, Janković L, Dimovski A J, Milenović D, Juricić D, Efremov G D
Abstract excerpt
Hb Yokohama [beta 31 (B13)Leu----Pro] was observed in a young Yugoslavian boy as a de novo mutation. The child exhibited severe transfusion-dependent hemolytic anemia. The variant was detected and quantitiated at 10.5% by reversed phase high performance liquid chromatography. In vitro globin chain synthesis showed a slight imbalance with an alpha/beta ratio of 1.38. Structural characterization of the abnormal...
Topics
- Anemia, Hemolytic, Congenital
- Base Sequence
- Blood Transfusion
- Child
- Codon
- Combined Modality Therapy
- DNA Mutational Analysis
- Globins
- HLA-DQ Antigens
- Hemoglobins, Abnormal
- Humans